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"name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "Q8VCP8", "url": "https://www.uniprot.org/uniprotkb/Q8VCP8" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "Q8VCP8", "url": "https://www.uniprot.org/uniprotkb/Q8VCP8" } ], "pmid": "" }, { "name": "coenzyme A biosynthetic process", "id": "GO:0015937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015937", "evidence": [ { "database": "UniProtKB", "id": "Q8VCP8", "url": "https://www.uniprot.org/uniprotkb/Q8VCP8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.1" }, { "uniprot_canonical_ac": "Q91V45-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91V45", "url": 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"L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042235", "evidence": [ { "id": "rs3544913170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544913170" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Asn120", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130039033", "evidence": [ { "id": "rs3396965857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396965857" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Ile121", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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}, { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130039023", "evidence": [ { "id": "rs3544871544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544871544" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Arg127", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130039011", "evidence": [ { "id": "rs3397357723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397357723" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Leu130", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130039002", "evidence": [ { "id": "rs3544830506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544830506" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Tyr132", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130038996", "evidence": [ { "id": "rs3397125662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397125662" } ] }, { "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130038996", "evidence": [ { "id": "rs3397125662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397125662" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Val140", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036619", "evidence": [ { "id": "rs3544933790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544933790" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Lys141", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036615", "evidence": [ { "id": "rs3397335371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397335371" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Met149", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036593", "evidence": [ { "id": "rs3544933911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544933911" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "14", "end_pos": "14", "site_lbl": "His14", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042224", "evidence": [ { "id": "rs3544871163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544871163" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Tyr153", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036580", "evidence": [ { "id": "rs3544869466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544869466" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Phe154", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036576", "evidence": [ { "id": "rs3397422277", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397422277" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Val155", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036575", "evidence": [ { "id": "rs3397415182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397415182" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Met156", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036572", "evidence": [ { "id": "rs3544830677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544830677" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Arg163", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036551", "evidence": [ { "id": "rs3544862216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544862216" } ] }, { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036550", "evidence": [ { "id": "rs3396573014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396573014" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Ser167", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036539", "evidence": [ { "id": "rs3397415223", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397415223" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036538", "evidence": [ { "id": "rs3397381853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397381853" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Gln169", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036532", "evidence": [ { "id": "rs3388845738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388845738" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Thr174", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036517", "evidence": [ { "id": "rs3397353704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397353704" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036518", "evidence": [ { "id": "rs3397125568", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397125568" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Leu175", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036515", "evidence": [ { "id": "rs3396963251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396963251" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Asp180", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036500", "evidence": [ { "id": "rs3396572962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396572962" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Lys185", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130030029", "evidence": [ { "id": "rs3544916440", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544916440" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Gln188", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130030022", "evidence": [ { "id": "rs3544916593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544916593" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Leu189", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130030019", "evidence": [ { "id": "rs3544871937", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544871937" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Val190", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130030016", "evidence": [ { "id": "rs3396965868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396965868" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Val191", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130030013", "evidence": [ { "id": "rs3544957588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544957588" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Pro192", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130030010", "evidence": [ { "id": "rs3545039679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545039679" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Ser195", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130030001", "evidence": [ { "id": "rs3397353707", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397353707" } ] }, { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130030000", "evidence": [ { "id": "rs3397421406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397421406" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Trp197", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130029994", "evidence": [ { "id": "rs3544829481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544829481" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Leu200", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130029984", "evidence": [ { "id": "rs3397125650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397125650" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Gln20", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042208", "evidence": [ { "id": "rs3545155863", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545155863" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ala210", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130029956", "evidence": [ { "id": "rs3544862679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544862679" } ] }, { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130029956", "evidence": [ { "id": "rs3544862679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544862679" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ile212", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130029950", "evidence": [ { "id": "rs3544823291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544823291" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Asp213", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130029946", "evidence": [ { "id": "rs3544862478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544862478" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Arg215", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130029941", "evidence": [ { "id": "rs3397365364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397365364" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Leu219", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130029929", "evidence": [ { "id": "rs3545156176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545156176" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Glu22", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042200", "evidence": [ { "id": "rs3544830531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544830531" } ] }, { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042202", "evidence": [ { "id": "rs3544933839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544933839" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Cys233", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130021096", "evidence": [ { "id": "rs3397215520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397215520" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Phe235", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130021089", "evidence": [ { "id": "rs3544933960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544933960" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Met23", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042197", "evidence": [ { "id": "rs3544834235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544834235" } ] }, { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042199", "evidence": [ { "id": "rs3544960674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544960674" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Asn244", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130021064", "evidence": [ { "id": "rs3544871430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544871430" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Tyr245", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130021061", "evidence": [ { "id": "rs3544830551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544830551" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Gln248", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130021052", "evidence": [ { "id": "rs3544934447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544934447" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Ile251", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130021043", "evidence": [ { "id": "rs3544861509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544861509" } ] }, { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130021042", "evidence": [ { "id": "rs3544862305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544862305" } ] }, { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130021043", "evidence": [ { "id": "rs3544861509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544861509" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Arg257", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130021024", "evidence": [ { "id": "rs3544830139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544830139" } ] }, { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130021023", "evidence": [ { "id": "rs3388862711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862711" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Asp259", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130021017", "evidence": [ { "id": "rs3397422312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397422312" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Lys26", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042190", "evidence": [ { "id": "rs3544983055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544983055" } ] }, { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042189", "evidence": [ { "id": "rs3544861819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544861819" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Glu27", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042185", "evidence": [ { "id": "rs3545039934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545039934" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Arg29", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042180", "evidence": [ { "id": "rs3544862816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544862816" } ] }, { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042180", "evidence": [ { "id": "rs3544862816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544862816" } ] }, { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042181", "evidence": [ { "id": "rs3397354580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397354580" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Thr2", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042261", "evidence": [ { "id": "rs3544913382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544913382" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Glu32", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042171", "evidence": [ { "id": "rs3397354612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397354612" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042172", "evidence": [ { "id": "rs3397357662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397357662" } ] }, { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042172", "evidence": [ { "id": "rs3397357662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397357662" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Arg35", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042163", "evidence": [ { "id": "rs3396574390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396574390" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Val38", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042154", "evidence": [ { "id": "rs3544862507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544862507" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Cys39", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130040156", "evidence": [ { "id": "rs3544830394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544830394" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Pro42", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130040147", "evidence": [ { "id": "rs3396574310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396574310" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Gln44", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130040141", "evidence": [ { "id": "rs3545156175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545156175" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Leu45", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130040138", "evidence": [ { "id": "rs3397295774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397295774" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Gly51", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130040120", "evidence": [ { "id": "rs3544831165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544831165" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Glu5", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042253", "evidence": [ { "id": "rs3396963256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396963256" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Thr60", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130040092", "evidence": [ { "id": "rs3397422287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397422287" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Val61", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130040090", "evidence": [ { "id": "rs3544869534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544869534" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Ala62", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130040087", "evidence": [ { "id": "rs3544960395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544960395" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Met65", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130040078", "evidence": [ { "id": "rs3544983574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544983574" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Gln73", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130039172", "evidence": [ { "id": "rs3397415162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397415162" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Lys79", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130039156", "evidence": [ { "id": "rs3397125681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397125681" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "80", "end_pos": "80", "site_lbl": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397381882" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Thr163", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130099075", "evidence": [ { "id": "rs3545043939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545043939" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Trp164", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130099071", "evidence": [ { "id": "rs3544944832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544944832" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Lys168", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130099059", "evidence": [ { "id": "rs3388870881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388870881" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Asn170", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130099052", "evidence": [ { "id": "rs3388858668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388858668" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Val176", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130099036", "evidence": [ { "id": "rs3397335361", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397335361" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Val179", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130099027", "evidence": [ { "id": "rs3388828831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388828831" } ] } ], "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "90% loss of interaction with Murid herpesvirus 1 glycoprotein m157.", "evidence": [ { "database": "UniProtKB", "id": "Q60682", "url": "https://www.uniprot.org/uniprotkb/Q60682" }, { "database": "PubMed", "id": "17182575", "url": "https://glygen.org/publication/PubMed/17182575" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Lys180", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130099022", "evidence": [ { "id": "rs3544944450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544944450" } ] } ], "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "No effect on the interaction Murid herpesvirus 1 glycoprotein m157.", "evidence": [ { "database": "UniProtKB", "id": "Q60682", "url": "https://www.uniprot.org/uniprotkb/Q60682" }, { "database": "PubMed", "id": "17182575", "url": "https://glygen.org/publication/PubMed/17182575" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Asp185", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130099008", "evidence": [ { "id": "rs3545044280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545044280" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Phe189", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130096025", "evidence": [ { "id": "rs3544916636", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544916636" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "193", "end_pos": "193", "site_lbl": "His193", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130096012", "evidence": [ { "id": "rs3544823584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544823584" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Leu196", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130096004", "evidence": [ { "id": "rs3397335391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397335391" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Ser198", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130095999", "evidence": [ { "id": "rs3544842365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544842365" } ] }, { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130095998", "evidence": [ { "id": "rs3545163175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545163175" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Leu203", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130095982", "evidence": [ { "id": "rs3544836243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544836243" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Lys210", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130095962", "evidence": [ { "id": "rs3544961219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544961219" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "216", "end_pos": "216", "site_lbl": "His216", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130095945", "evidence": [ { "id": "rs3397216129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397216129" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Asn217", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130095942", "evidence": [ { "id": "rs3544872968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544872968" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Gly218", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130095938", "evidence": [ { "id": "rs3544873288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544873288" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Gln219", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130095935", "evidence": [ { "id": "rs3545162422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545162422" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Met224", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092628", "evidence": [ { "id": "rs584362590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584362590" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Ile226", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092624", "evidence": [ { "id": "rs580545149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs580545149" } ] }, { "sequence_org": "I", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092623", "evidence": [ { "id": "rs3544913217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544913217" } ] }, { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092623", "evidence": [ { "id": "rs3544913217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544913217" } ] } ], "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "No effect on the interaction with Murid herpesvirus 1 glycoprotein m157.", "evidence": [ { "database": "UniProtKB", "id": "Q60682", "url": "https://www.uniprot.org/uniprotkb/Q60682" }, { "database": "PubMed", "id": "17182575", "url": "https://glygen.org/publication/PubMed/17182575" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Lys227", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092620", "evidence": [ { "id": "rs244150199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244150199" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Thr232", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092605", "evidence": [ { "id": "rs587476285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587476285" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Ser233", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092603", "evidence": [ { "id": "rs585110131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585110131" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Ala242", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092576", "evidence": [ { "id": "rs3544912615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544912615" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Ile244", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092570", "evidence": [ { "id": "rs3388858705", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388858705" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Glu245", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092567", "evidence": [ { "id": "rs581666229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581666229" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Arg24", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130105052", "evidence": [ { "id": "rs3544913333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544913333" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Thr251", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092548", "evidence": [ { "id": "rs587284563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587284563" } ] }, { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092548", "evidence": [ { "id": "rs587284563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587284563" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Lys263", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092512", "evidence": [ { "id": "rs3544873209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544873209" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Phe264", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092508", "evidence": [ { "id": "rs3544916539", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544916539" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Asp266", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092503", "evidence": [ { "id": "rs3544835737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544835737" } ] }, { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092504", "evidence": [ { "id": "rs3544823797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544823797" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130092504", "evidence": [ { "id": "rs3544823797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544823797" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Gly27", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130105044", "evidence": [ { "id": "rs3544862555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544862555" } ] } 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544916402" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130102141", "evidence": [ { "id": "rs3544835417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544835417" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Pro9", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130105099", "evidence": [ { "id": "rs3544873573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544873573" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Tyr118", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Partial loss of interaction with Murid herpesvirus 1 glycoprotein m157.", "evidence": [ { "database": "UniProtKB", "id": "Q60682", "url": "https://www.uniprot.org/uniprotkb/Q60682" }, { "database": "PubMed", "id": "23666294", "url": "https://glygen.org/publication/PubMed/23666294" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Gln123", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Complete loss of interaction with Murid herpesvirus 1 glycoprotein m157.", "evidence": [ { "database": "UniProtKB", "id": "Q60682", "url": "https://www.uniprot.org/uniprotkb/Q60682" }, { "database": "PubMed", "id": "23666294", "url": "https://glygen.org/publication/PubMed/23666294" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Trp126", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", 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"https://www.alliancegenome.org/disease/DOID:0040002" } ], "weight": 0.0 }, { "disease_id": "DOID:0050127", "name": "sinusitis", "description": "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. 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There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0080821", "name": "exercise-induced bronchoconstriction", "description": "An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise.", "url": "https://disease-ontology.org/term/DOID:0080821", "evidence": [ { "id": "0080821", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080821" } ], "weight": 0.0 }, { "disease_id": "DOID:0080822", "name": "aspirin-induced respiratory disease", "description": "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.", "url": "https://disease-ontology.org/term/DOID:0080822", "evidence": [ { "id": "0080822", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080822" } ], "weight": 0.0 }, { "disease_id": "DOID:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID:1852", "name": "intrahepatic cholestasis", "description": "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.", "url": "https://disease-ontology.org/term/DOID:1852", "evidence": [ { "id": "1852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1852" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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"id": "Q64281", "url": "https://www.uniprot.org/uniprotkb/Q64281" } ], "pmid": "" }, { "name": "response to nematode", "id": "GO:0009624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009624", "evidence": [ { "database": "UniProtKB", "id": "Q64281", "url": "https://www.uniprot.org/uniprotkb/Q64281" } ], "pmid": "" }, { "name": "negative regulation of immunoglobulin production", "id": "GO:0002638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002638", "evidence": [ { "database": "UniProtKB", "id": "Q64281", "url": "https://www.uniprot.org/uniprotkb/Q64281" } ], "pmid": "" }, { "name": "negative regulation of natural killer cell activation", "id": "GO:0032815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032815", "evidence": [ { "database": "UniProtKB", "id": "Q64281", "url": "https://www.uniprot.org/uniprotkb/Q64281" } ], "pmid": "" }, { "name": "negative regulation of monocyte activation", "id": "GO:0150102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150102", "evidence": [ 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544880895" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "S", "comment": "No effect on MHC class I binding; when associated with S-173.", "evidence": [ { "database": "UniProtKB", "id": "Q64329", "url": "https://www.uniprot.org/uniprotkb/Q64329" }, { "database": "PubMed", "id": "11777974", "url": "https://glygen.org/publication/PubMed/11777974" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Leu179", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130307111", "evidence": [ { "id": "rs3397519892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397519892" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Arg192", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130304117", "evidence": [ { "id": "rs3544837303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544837303" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "193", "end_pos": "193", "site_lbl": "His193", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130304113", "evidence": [ { "id": "rs3388858652", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388858652" } ] }, { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130304112", "evidence": [ { "id": "rs3544846360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544846360" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Pro196", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130304105", "evidence": [ { "id": "rs3544877685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544877685" } ] } ], "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Greatly reduces MHC class I peptide tetramer binding; when associated with P-195.", "evidence": [ { "database": "UniProtKB", "id": "Q64329", "url": "https://www.uniprot.org/uniprotkb/Q64329" }, { "database": "PubMed", "id": "11777974", "url": "https://glygen.org/publication/PubMed/11777974" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Asn198", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130304099", "evidence": [ { "id": "rs3396576160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396576160" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130304098", "evidence": [ { "id": "rs3397519894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397519894" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Tyr199", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130304096", "evidence": [ { "id": "rs3544883042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544883042" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Leu203", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130304082", "evidence": [ { "id": "rs3544874216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544874216" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Lys208", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130304068", "evidence": [ { "id": "rs3544851121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544851121" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Ala213", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130304053", "evidence": [ { "id": "rs3544845885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544845885" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Asp216", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130304045", "evidence": [ { "id": "rs3544874094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544874094" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Pro219", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130304035", "evidence": [ { "id": "rs3544924345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544924345" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Leu222", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130304027", "evidence": [ { "id": "rs3544923921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544923921" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Ile226", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130300692", "evidence": [ { "id": "rs3544847214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544847214" } ] } ], "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Greatly reduces MHC class I peptide tetramer binding; when associated with N-225.", "evidence": [ { "database": "UniProtKB", "id": "Q64329", "url": "https://www.uniprot.org/uniprotkb/Q64329" }, { "database": "PubMed", "id": "11777974", "url": "https://glygen.org/publication/PubMed/11777974" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Leu22", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130312698", "evidence": [ { "id": "rs3397424882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397424882" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Asn230", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130300679", "evidence": [ { "id": "rs3544928625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544928625" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ile247", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130300628", "evidence": [ { "id": "rs3544851036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544851036" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Val34", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130312662", "evidence": [ { "id": "rs3544882531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544882531" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Ala41", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130311258", "evidence": [ { "id": "rs3396576144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396576144" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Pro42", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130311256", "evidence": [ { "id": "rs3544850546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544850546" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Gln44", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130311250", "evidence": [ { "id": "rs3397217691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397217691" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Ile46", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130311242", "evidence": [ { "id": "rs3397128211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397128211" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Leu56", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130311214", "evidence": [ { "id": "rs3397357134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397357134" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Thr60", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130311201", "evidence": [ { "id": "rs3544884716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544884716" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Asn72", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130310304", "evidence": [ { "id": "rs3545176282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545176282" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "86", "end_pos": "86", "site_lbl": "His86", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130310262", "evidence": [ { "id": "rs3544954470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544954470" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Arg93", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130310240", "evidence": [ { "id": "rs3397367628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397367628" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Ala94", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130310238", "evidence": [ { "id": "rs3397384476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397384476" } ] }, { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130310238", "evidence": [ { "id": "rs3397384476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397384476" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Arg121", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Increases stability and improves binding to MHCI class ligand; when associated with G-175; G-197 and K-227.", "evidence": [ { "database": "UniProtKB", "id": "Q64329", "url": "https://www.uniprot.org/uniprotkb/Q64329" }, { "database": "PubMed", "id": "14595439", "url": "https://glygen.org/publication/PubMed/14595439" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Lys161", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on MHC class I peptide tetramer binding.", "evidence": [ { "database": "UniProtKB", "id": "Q64329", "url": "https://www.uniprot.org/uniprotkb/Q64329" }, { "database": "PubMed", "id": "11777974", "url": "https://glygen.org/publication/PubMed/11777974" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Thr162", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Greatly reduces MHC class I peptide tetramer binding; when associated with D-160.", "evidence": [ { "database": "UniProtKB", "id": "Q64329", "url": "https://www.uniprot.org/uniprotkb/Q64329" }, { "database": "PubMed", "id": "11777974", "url": "https://glygen.org/publication/PubMed/11777974" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Ala169", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "Q", "comment": "No effect on MHC class I peptide tetramer binding; when associated with T-170.", "evidence": [ { "database": "UniProtKB", "id": "Q64329", "url": "https://www.uniprot.org/uniprotkb/Q64329" }, { "database": "PubMed", "id": "11777974", "url": "https://glygen.org/publication/PubMed/11777974" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "173", "end_pos": "173", "site_lbl": "His173", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "S", "comment": "No effect on MHC class I peptide tetramer binding; when associated with S-174.", "evidence": [ { "database": "UniProtKB", "id": "Q64329", "url": "https://www.uniprot.org/uniprotkb/Q64329" }, { "database": "PubMed", "id": "11777974", "url": "https://glygen.org/publication/PubMed/11777974" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Ser175", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Increases stability. Increases stability and improves binding to MHCI class ligand; when associated with G-121; G-197 and K-227.", "evidence": [ { "database": "UniProtKB", "id": "Q64329", "url": "https://www.uniprot.org/uniprotkb/Q64329" }, { "database": "PubMed", "id": "14595439", "url": "https://glygen.org/publication/PubMed/14595439" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Ile195", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "P", "comment": "Greatly reduces MHC class I peptide tetramer binding; when associated with S-196.", "evidence": [ { "database": "UniProtKB", "id": "Q64329", "url": "https://www.uniprot.org/uniprotkb/Q64329" }, { "database": "PubMed", "id": "11777974", "url": "https://glygen.org/publication/PubMed/11777974" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Glu197", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "G", 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obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cerebellar granular layer development", "id": "GO:0021681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021681", "evidence": [ { "database": "UniProtKB", "id": "Q8K097", "url": "https://www.uniprot.org/uniprotkb/Q8K097" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q8K097", "url": "https://www.uniprot.org/uniprotkb/Q8K097" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8K097", "url": "https://www.uniprot.org/uniprotkb/Q8K097" } ], 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"evidence": [ { "id": "rs244683985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244683985" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Leu355", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36975990", "evidence": [ { "id": "rs234511138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234511138" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Ala357", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36975985", "evidence": [ { "id": "rs212471368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212471368" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Gln418", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36975036", "evidence": [ { "id": "rs3388760145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388760145" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "419", "end_pos": "419", "site_lbl": "His419", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36975033", "evidence": [ { "id": "rs3388747293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388747293" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Lys430", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36975000", "evidence": [ { "id": "rs3388752135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388752135" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Leu439", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36970328", "evidence": [ { "id": "rs3388758736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758736" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Val451", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36974938", "evidence": [ { "id": "rs3388757448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388757448" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Gly457", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36974921", "evidence": [ { "id": "rs3388740021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388740021" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Pro472", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36973564", "evidence": [ { "id": "rs3388760165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388760165" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Ala496", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36973492", "evidence": [ { "id": "rs5527036064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527036064" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Thr500", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36973479", "evidence": [ { "id": "rs3388750332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388750332" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Thr504", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36973467", "evidence": [ { "id": "rs3388757536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388757536" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Thr524", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36973408", "evidence": [ { "id": "rs5527014206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527014206" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Gln525", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36973405", "evidence": [ { "id": "rs3388755199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388755199" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "551", "end_pos": "551", "site_lbl": "His551", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36972862", "evidence": [ { "id": "rs3388747304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388747304" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Arg558", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36972840", "evidence": [ { "id": "rs244786252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244786252" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Gly559", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36972838", "evidence": [ { "id": "rs32678073", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32678073" } ] }, { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36972837", "evidence": [ { "id": "rs3388758112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758112" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Leu567", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36972813", "evidence": [ { "id": "rs3388750370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388750370" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Asn573", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36972794", "evidence": [ { "id": "rs248870454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248870454" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "578", "end_pos": "578", "site_lbl": "Ser578", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36972780", "evidence": [ { "id": "rs3388742930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388742930" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "607", "end_pos": "607", "site_lbl": "Asp607", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36972693", "evidence": [ { "id": "rs260366352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260366352" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36972694", "evidence": [ { "id": "rs234536581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234536581" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Val60", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36987079", "evidence": [ { "id": "rs3388760173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388760173" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "623", "end_pos": "623", "site_lbl": "Val623", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36971848", "evidence": [ { "id": "rs3388740005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388740005" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "636", "end_pos": "636", "site_lbl": "Trp636", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36971809", "evidence": [ { "id": "rs227335450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227335450" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "655", "end_pos": "655", "site_lbl": "Ala655", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36971751", "evidence": [ { "id": "rs3388739980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388739980" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Trp659", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36971739", "evidence": [ { "id": "rs3395394799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395394799" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Val65", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36987064", "evidence": [ { "id": "rs253974479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253974479" } ] }, { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36987064", "evidence": [ { "id": "rs253974479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253974479" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "661", "end_pos": "661", "site_lbl": "Ala661", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36971733", "evidence": [ { "id": "rs3388758034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758034" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "663", "end_pos": "663", "site_lbl": "Gly663", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36971728", "evidence": [ { "id": "rs3395279042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395279042" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "670", "end_pos": "670", "site_lbl": "Thr670", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36971707", "evidence": [ { "id": "rs32678797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32678797" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "686", "end_pos": "686", "site_lbl": "Gln686", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36971309", "evidence": [ { "id": "rs3388763929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388763929" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "693", "end_pos": "693", "site_lbl": "His693", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36971287", "evidence": [ { "id": "rs3388759229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388759229" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "697", "end_pos": "697", "site_lbl": "Ala697", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36971276", "evidence": [ { "id": 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"prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 60, "start_aa": "Ser", "end_pos": 60, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser60", "evidence": [ { "id": "O08663", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08663#ptm_processing" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08663", "url": "https://www.uniprot.org/uniprotkb/O08663" } ] } ] } ], "record_id": "batch.mouse.1" }, { "uniprot_canonical_ac": "P13297-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 303, "chemical_mass": 31672.0, "gene_names": "Msx1;Hox-7;Hox7.1;Hox7;Msx1;msh", "protein_name": "Homeobox protein MSX-1", "disease": [ { "disease_id": "DOID:0050567", "name": "orofacial cleft", "description": "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.", "url": "https://disease-ontology.org/term/DOID:0050567", "evidence": [ { "id": "0050567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050567" } ], "weight": 0.0 }, { "disease_id": "DOID:0050591", "name": "tooth agenesis", "description": "A tooth disease characterized by failure to develop one or more missing teeth.", "url": "https://disease-ontology.org/term/DOID:0050591", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ], "weight": 0.0 }, { "disease_id": "DOID:0080399", "name": "orofacial cleft 5", "description": "An 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"pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "embryonic morphogenesis", "id": "GO:0048598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048598", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "middle ear morphogenesis", "id": "GO:0042474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042474", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "negative regulation of striated muscle cell differentiation", "id": "GO:0051154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051154", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "cartilage morphogenesis", "id": "GO:0060536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060536", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition involved in endocardial cushion formation", "id": "GO:0003198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003198", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "positive regulation of odontogenesis", "id": "GO:0042482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042482", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "signal transduction involved in regulation of gene expression", "id": "GO:0023019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023019", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "mammary gland epithelium development", "id": "GO:0061180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061180", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "regulation of odontogenesis", "id": "GO:0042481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042481", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "activation of meiosis", "id": "GO:0090427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090427", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:1902255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902255", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": 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{ "name": "sex differentiation", "id": "GO:0007548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007548", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "hormone metabolic process", "id": "GO:0042445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042445", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "smooth 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{ "name": "metanephric nephron development", "id": "GO:0072210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072210", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "negative regulation of fibroblast growth factor receptor signaling pathway", "id": "GO:0040037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040037", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "renal vesicle induction", "id": "GO:0072034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072034", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "oocyte development", "id": "GO:0048599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048599", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "non-canonical Wnt signaling pathway", "id": "GO:0035567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035567", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "negative regulation of testosterone biosynthetic process", "id": "GO:2000225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000225", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "mesonephros development", "id": "GO:0001823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001823", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "positive regulation of aldosterone biosynthetic process", "id": "GO:0032349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032349", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "negative regulation of steroid biosynthetic process", "id": "GO:0010894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010894", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "thyroid-stimulating hormone-secreting cell differentiation", "id": "GO:0060129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060129", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "mesenchymal to epithelial transition", "id": "GO:0060231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060231", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "gamete generation", "id": "GO:0007276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007276", "evidence": [ { 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"P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "immature T cell proliferation in thymus", "id": "GO:0033080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033080", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "positive regulation of dermatome development", "id": "GO:0061184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061184", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "negative regulation of testicular blood vessel morphogenesis", "id": "GO:0061369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061369", "evidence": [ { "database": "UniProtKB", "id": "P22724", "url": "https://www.uniprot.org/uniprotkb/P22724" } ], "pmid": "" }, { "name": "metanephric nephron morphogenesis", "id": "GO:0072273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072273", 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factor receptor signaling pathway", "id": "GO:0030949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030949", "evidence": [ { "database": "UniProtKB", "id": "Q02858", "url": "https://www.uniprot.org/uniprotkb/Q02858" } ], "pmid": "" }, { "name": "positive regulation of cytokine production involved in immune response", "id": "GO:0002720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002720", "evidence": [ { "database": "UniProtKB", "id": "Q02858", "url": "https://www.uniprot.org/uniprotkb/Q02858" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "Q02858", "url": "https://www.uniprot.org/uniprotkb/Q02858" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "Q02858", "url": "https://www.uniprot.org/uniprotkb/Q02858" } ], "pmid": "" }, { "name": "positive regulation of Rac protein signal transduction", "id": "GO:0035022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035022", "evidence": [ { "database": "UniProtKB", "id": "Q02858", "url": "https://www.uniprot.org/uniprotkb/Q02858" } ], "pmid": "" }, { "name": "regulation of endothelial cell apoptotic process", "id": "GO:2000351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000351", "evidence": [ { "database": "UniProtKB", "id": "Q02858", "url": "https://www.uniprot.org/uniprotkb/Q02858" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "Q02858", "url": "https://www.uniprot.org/uniprotkb/Q02858" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q02858", "url": "https://www.uniprot.org/uniprotkb/Q02858" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q02858", "url": "https://www.uniprot.org/uniprotkb/Q02858" } ], "pmid": "" }, { "name": "growth factor binding", "id": "GO:0019838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019838", "evidence": [ { "database": "UniProtKB", "id": "Q02858", "url": "https://www.uniprot.org/uniprotkb/Q02858" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q02858", "url": "https://www.uniprot.org/uniprotkb/Q02858" } ], "pmid": "" }, { "name": "transmembrane receptor protein tyrosine kinase activity", "id": "GO:0004714", "url": 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"prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 807, "start_aa": "Asn", "end_pos": 807, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn807", "evidence": [ { "id": "Q8K2I4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K2I4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Asn89", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IPFNLSEWQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 89, "start_aa": "Asn", "end_pos": 89, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 89, "start_aa": "Asn", "end_pos": 89, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "evidence": [ { "id": "Q8K2I4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K2I4#ptm_processing" }, { "id": "30552791", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30552791" }, { "id": "6DDT", "database": "PDB", "url": "https://www.rcsb.org/sequence/6DDT" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Thr304", 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"sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (KLS->NLS); glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135276110", "evidence": [ { "id": "rs221064614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221064614" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Gln143", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135217612", "evidence": [ { "id": "rs3388669336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388669336" } ] }, { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135217613", "evidence": [ { "id": "rs241314435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241314435" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Arg145", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135217618", "evidence": [ { "id": "rs258727604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258727604" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Cys153", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135217642", "evidence": [ { "id": "rs3388665646", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Arg162", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135217670", "evidence": [ { "id": "rs229945138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229945138" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Trp190", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135223683_135223684in", "evidence": [ { "id": "rs3393570039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393570039" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "210", "end_pos": "210", "site_lbl": 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"weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135248154", "evidence": [ { "id": "rs3388654569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388654569" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Asp365", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135248206", "evidence": [ { "id": "rs3388667171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388667171" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Asn385", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135250527", "evidence": [ { "id": "rs3388662740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388662740" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Leu403", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135250581", "evidence": [ { "id": "rs3388663801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388663801" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Phe428", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135253362", "evidence": [ { "id": "rs3388665311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388665311" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Ala42", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135191565", "evidence": [ { "id": "rs3388669303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388669303" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Ser463", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135255032", "evidence": [ { "id": "rs39503174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs39503174" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "468", "end_pos": "468", "site_lbl": "His468", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135255047", "evidence": [ { "id": "rs3388666560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388666560" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Lys491", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135255116", "evidence": [ { "id": "rs581127491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581127491" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Ser50", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135191590", "evidence": [ { "id": "rs3388660453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388660453" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Met511", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135256871", "evidence": [ { "id": "rs214692751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214692751" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Gln54", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135191602", "evidence": [ { "id": "rs1135124889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135124889" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Ser571", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135260527", "evidence": [ { "id": "rs217151848", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217151848" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "578", "end_pos": "578", "site_lbl": "Asn578", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135260548", "evidence": [ { "id": "rs5526342951", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526342951" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "589", "end_pos": "589", "site_lbl": "Glu589", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135260583", "evidence": [ { "id": "rs3393258118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393258118" } ] }, { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135260582", "evidence": [ { "id": "rs258471173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258471173" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "590", "end_pos": "590", "site_lbl": "Asp590", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135260585", "evidence": [ { "id": "rs3393691397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393691397" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "593", "end_pos": "593", "site_lbl": "His593", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135260594", "evidence": [ { "id": "rs3393469345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393469345" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "608", "end_pos": "608", "site_lbl": "Gly608", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135260638", "evidence": [ { "id": "rs222370122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222370122" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "613", "end_pos": "613", "site_lbl": "Arg613", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135260654", "evidence": [ { "id": "rs233957069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233957069" } ] }, { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135260654", "evidence": [ { "id": "rs233957069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233957069" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "614", "end_pos": "614", "site_lbl": "Thr614", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135260656", "evidence": [ { "id": "rs3388659426", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388659426" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "622", "end_pos": "622", "site_lbl": "Thr622", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135260681", "evidence": [ { "id": "rs3388665637", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388665637" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Ala654", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135269056", "evidence": [ { "id": "rs3388659422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388659422" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "656", "end_pos": "656", "site_lbl": "Tyr656", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135269063", "evidence": [ { "id": "rs3388662182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388662182" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "657", "end_pos": "657", "site_lbl": "Trp657", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135269067", "evidence": [ { "id": "rs3388653040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388653040" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "664", "end_pos": "664", "site_lbl": "Gln664", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135269088", "evidence": [ { "id": "rs3388662679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388662679" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "684", "end_pos": "684", "site_lbl": "Ala684", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135272284", "evidence": [ { "id": "rs3388653059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388653059" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "690", "end_pos": "690", "site_lbl": "Pro690", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135272303", "evidence": [ { "id": "rs3388662160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388662160" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "696", "end_pos": "696", "site_lbl": "Phe696", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135272320_135272321insCTGAGACGCCATAGACGTAAAAAAC", "evidence": [ { "id": "rs3393721821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393721821" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "701", "end_pos": "701", "site_lbl": "Val701", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135272335", "evidence": [ { "id": "rs240597029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240597029" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "707", "end_pos": "707", "site_lbl": "Val707", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135272353", "evidence": [ { "id": "rs38402641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs38402641" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "714", "end_pos": "714", "site_lbl": "His714", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135272374", "evidence": [ { "id": "rs37914123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37914123" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Pro728", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135273250", "evidence": [ { "id": "rs3507724825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507724825" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "739", "end_pos": "739", "site_lbl": "Ile739", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135273282", "evidence": [ { "id": "rs37603477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37603477" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Ile73", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135212709", "evidence": [ { "id": "rs222385761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222385761" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "740", "end_pos": "740", "site_lbl": "Val740", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135273286", "evidence": [ { "id": "rs264739117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264739117" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "744", "end_pos": "744", "site_lbl": "Gly744", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135273297", "evidence": [ { "id": "rs39029118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs39029118" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "764", "end_pos": "764", "site_lbl": "Cys764", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135273357", "evidence": [ { "id": "rs3388662175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388662175" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "810", "end_pos": "810", "site_lbl": "Gln810", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135275987_135275988insGAGAGATGTT", "evidence": [ { "id": "rs3393487028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393487028" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "834", "end_pos": "834", 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"uniprot_canonical_ac": "P70699-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Val357", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119165581", "evidence": [ { "id": "rs3389231404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389231404" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Trp367", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119165705", "evidence": [ { "id": "rs864302704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864302704" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Val387", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119165765", "evidence": [ { "id": "rs3389227736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389227736" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Val388", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119165768", "evidence": [ { "id": "rs3389211814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389211814" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Arg393", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119165785", "evidence": [ { "id": "rs219840253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219840253" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Thr394", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119165787", "evidence": [ { "id": "rs3389223532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223532" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Arg412", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119165926", "evidence": [ { "id": "rs3389220142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389220142" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Asp419", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119165948", "evidence": [ { "id": "rs3389223484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223484" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Asp41", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119161080", "evidence": [ { "id": "rs3389217587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389217587" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "429", "end_pos": "429", "site_lbl": "Arg429", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119165977", "evidence": [ { "id": "rs223480783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223480783" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Asp434", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119165992", "evidence": [ { "id": "rs26999948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs26999948" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Arg464", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119167732", "evidence": [ { "id": "rs3389231424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389231424" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ser47", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119161097", "evidence": [ { "id": "rs232968342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232968342" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "508", "end_pos": "508", "site_lbl": "Ala508", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119168411", "evidence": [ { "id": "rs3389185218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389185218" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Val510", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119168418", "evidence": [ { "id": "rs3389185178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389185178" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Ser523", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119168536", "evidence": [ { "id": "rs3507988729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507988729" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Val526", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119168544", "evidence": [ { "id": "rs3389223529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223529" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Gly546", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119168604", "evidence": [ { "id": "rs3389234430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389234430" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "549", "end_pos": "549", "site_lbl": "Gly549", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119169099", "evidence": [ { "id": "rs3389221471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389221471" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Arg54", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119165926", "evidence": [ { "id": "rs3389220142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389220142" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Cys558", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119169127", "evidence": [ { "id": "rs3389231391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389231391" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "56", "end_pos": "56", "site_lbl": "His56", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119161125", "evidence": [ { "id": "rs26999971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs26999971" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Gln58", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119165565", "evidence": [ { "id": "rs3389185207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389185207" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "591", "end_pos": "591", "site_lbl": "Arg591", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119169719", "evidence": [ { "id": "rs3389231449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389231449" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "604", "end_pos": "604", "site_lbl": "Ser604", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119169757", "evidence": [ { "id": "rs3389223150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223150" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "605", "end_pos": "605", "site_lbl": "Gly605", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119169761", "evidence": [ { "id": "rs3389234445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389234445" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Lys62", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119161142", "evidence": [ { "id": "rs26999970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs26999970" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "699", "end_pos": "699", "site_lbl": "Phe699", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119171993", "evidence": [ { "id": "rs223680250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223680250" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "713", "end_pos": "713", "site_lbl": "Phe713", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119172036", "evidence": [ { "id": "rs3402877777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402877777" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Gln71", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119161170", "evidence": [ { "id": "rs26999969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs26999969" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "749", "end_pos": "749", "site_lbl": "Ala749", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119174056", "evidence": [ { "id": "rs3389223520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223520" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "751", "end_pos": "751", "site_lbl": "Leu751", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119174061", "evidence": [ { "id": "rs3389185229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389185229" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "761", "end_pos": "761", "site_lbl": "Thr761", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119174092", "evidence": [ { "id": "rs3389211803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389211803" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "769", "end_pos": "769", "site_lbl": "Lys769", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119174115", "evidence": [ { "id": "rs3389234462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389234462" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "774", "end_pos": "774", "site_lbl": "Asn774", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119174132", "evidence": [ { "id": "rs3389227735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389227735" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "777", "end_pos": "777", "site_lbl": "Met777", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119174139", "evidence": [ { "id": "rs13469731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13469731" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "786", "end_pos": "786", "site_lbl": "Leu786", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119174510", "evidence": [ { "id": "rs3402879867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402879867" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "794", "end_pos": "794", "site_lbl": "Ser794", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119174534", "evidence": [ { "id": "rs26999909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs26999909" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119174534", "evidence": [ { "id": "rs26999909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs26999909" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "799", "end_pos": "799", "site_lbl": "Val799", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119174550", "evidence": [ { "id": "rs3389227774", "database": "dbSNP", "url": 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"gene_names": "Selp;CD62P;GMP-140;Grmp;LECAM3;PADGEM;Selp", "protein_name": "P-selectin", "disease": [ { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:0112313", "name": "brain small vessel disease", "description": "A brain disease characterized by abnormalities in the small blood vessels in the brain.", "url": "https://disease-ontology.org/term/DOID:0112313", "evidence": [ { "id": "0112313", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112313" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "oligosaccharide binding", "id": "GO:0070492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070492", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "sialic acid binding", "id": "GO:0033691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033691", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "fucose binding", "id": "GO:0042806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042806", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of integrin activation", "id": "GO:0033623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033623", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "positive regulation of leukocyte tethering or rolling", "id": "GO:1903238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903238", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "leukocyte cell-cell adhesion", "id": "GO:0007159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007159", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "leukocyte migration", "id": "GO:0050900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050900", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "heterophilic cell-cell adhesion via plasma 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filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163959757", "evidence": [ { "id": "rs30667849", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30667849" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Thr351", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163959797", "evidence": [ { "id": "rs3388510304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510304" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Ala355", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163959808", "evidence": [ { "id": "rs3388512600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388512600" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Glu356", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163959811", "evidence": [ { "id": "rs3388513283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388513283" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Gln373", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163959863", "evidence": [ { "id": "rs3388510973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510973" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Phe380", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163959883", "evidence": [ { "id": "rs256693441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256693441" } ] }, { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163959883", "evidence": [ { "id": "rs256693441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256693441" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Cys386", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163961445", "evidence": [ { "id": "rs3388512954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388512954" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ala40", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163953820", "evidence": [ { "id": "rs228105110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228105110" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Asn437", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: 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"163964700", "evidence": [ { "id": "rs3388512448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388512448" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Leu465", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163964732", "evidence": [ { "id": "rs3388510979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510979" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Ser493", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163964817", "evidence": [ { "id": "rs50515594", "database": "dbSNP", "url": 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passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57045289", "evidence": [ { "id": "rs3411191432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411191432" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Leu472", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57045306", "evidence": [ { "id": "rs3389044537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044537" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Val510", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57045751", "evidence": [ { "id": "rs3389042609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042609" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "513", "end_pos": "513", "site_lbl": "Leu513", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57045306", "evidence": [ { "id": "rs3389044537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044537" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "529", "end_pos": "529", "site_lbl": "Lys529", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57046137", "evidence": [ { "id": "rs3389053080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053080" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57046136", "evidence": [ { "id": "rs3400006340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400006340" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "530", "end_pos": "530", "site_lbl": "Lys530", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57046138", "evidence": [ { "id": "rs3400304681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400304681" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Leu53", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57046193", "evidence": [ { "id": "rs3389042565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042565" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Leu548", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57046193", "evidence": [ { "id": "rs3389042565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042565" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "608", "end_pos": "608", "site_lbl": "Ala608", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57046568", "evidence": [ { "id": "rs3389023267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389023267" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "610", "end_pos": "610", "site_lbl": "Ala610", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57046568", "evidence": [ { "id": "rs3389023267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389023267" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "617", "end_pos": "617", "site_lbl": "Glu617", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57046589", "evidence": [ { "id": "rs3389027350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389027350" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Pro618", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57046593", "evidence": [ { "id": "rs3389044515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044515" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "631", "end_pos": "631", "site_lbl": "Trp631", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57046632", "evidence": [ { "id": "rs3389015010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389015010" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "640", "end_pos": "640", "site_lbl": "Pro640", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57046658", "evidence": [ { "id": "rs3389050673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050673" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "683", "end_pos": "683", "site_lbl": "Asp683", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57047159", "evidence": [ { "id": "rs3389053154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053154" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "693", "end_pos": "693", "site_lbl": "Ile693", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57047188", "evidence": [ { "id": "rs3389053067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053067" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Gly69", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57038546", "evidence": [ { "id": "rs3389048317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048317" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "714", "end_pos": "714", "site_lbl": "Glu714", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57047957", "evidence": [ { "id": "rs3389036049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389036049" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Gln724", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57047514", "evidence": [ { "id": "rs3389054370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389054370" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Phe728", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57047527", "evidence": [ { "id": "rs3389023292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389023292" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "729", "end_pos": "729", "site_lbl": "Asp729", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57047531", "evidence": [ { "id": "rs3389048876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048876" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "785", "end_pos": "785", "site_lbl": "Glu785", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57047775", "evidence": [ { "id": "rs3389015045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389015045" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "786", "end_pos": "786", "site_lbl": "Val786", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57047778", "evidence": [ { "id": "rs3389054332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389054332" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "793", "end_pos": "793", "site_lbl": "Pro793", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57048610", "evidence": [ { "id": "rs3389044486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044486" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "796", "end_pos": "796", "site_lbl": "Arg796", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57047809", "evidence": [ { "id": "rs3389054390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389054390" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "797", "end_pos": "797", "site_lbl": "Phe797", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57047812", "evidence": [ { "id": "rs3399168397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399168397" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "800", "end_pos": "800", "site_lbl": "Glu800", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57047822", "evidence": [ { "id": "rs3389056420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389056420" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "813", "end_pos": "813", "site_lbl": "Glu813", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57047957", "evidence": [ { "id": "rs3389036049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389036049" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "817", "end_pos": "817", "site_lbl": "Arg817", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57047968", "evidence": [ { "id": "rs3389027314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389027314" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "826", "end_pos": "826", "site_lbl": "Glu826", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57047775", "evidence": [ { "id": "rs3389015045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389015045" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "833", "end_pos": "833", "site_lbl": "Gln833", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57048016", "evidence": [ { "id": "rs3389048676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048676" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "840", "end_pos": "840", "site_lbl": "Thr840", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57048037", "evidence": [ { "id": "rs3389042480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389042480" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "852", "end_pos": "852", "site_lbl": "His852", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57048394", "evidence": [ { "id": "rs3389044526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389044526" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "883", "end_pos": "883", "site_lbl": "Leu883", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57048494", "evidence": [ { "id": "rs3389027355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389027355" } ] } ] }, { "uniprot_canonical_ac": "Q91W89-1", "start_pos": "885", "end_pos": "885", "site_lbl": "Leu885", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "57048494", "evidence": [ { "id": "rs3389027355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389027355" } ] } ] }, { 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"uniprot_canonical_ac": "Q00690-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Asp420", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163880698", "evidence": [ { "id": "rs217982513", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217982513" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Asp433", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163881119", "evidence": [ { "id": "rs234883653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234883653" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "436", "end_pos": "436", "site_lbl": "Arg436", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163881129", "evidence": [ { "id": "rs252142211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252142211" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Val441", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163881143", "evidence": [ { "id": "rs215758600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215758600" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Gly465", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": 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] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "556", "end_pos": "556", "site_lbl": "Arg556", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163882204", "evidence": [ { "id": "rs3388512004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388512004" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Ala561", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163882219", "evidence": [ { "id": "rs258040244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258040244" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Ser563", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163882225", "evidence": [ { "id": "rs3388512486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388512486" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "564", "end_pos": "564", "site_lbl": "Ala564", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163882228", "evidence": [ { "id": "rs49464555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49464555" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "572", "end_pos": "572", "site_lbl": "Ser572", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163882252", "evidence": [ { "id": "rs238246992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238246992" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Leu575", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163882262", "evidence": [ { "id": "rs3539888107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539888107" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Arg5", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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"sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163883274", "evidence": [ { "id": "rs3388509903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509903" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Val80", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163876985", "evidence": [ { "id": "rs45982722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45982722" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Trp81", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163876987", "evidence": [ { "id": "rs3388511587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511587" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Ile82", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163876990", "evidence": [ { "id": "rs49107893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49107893" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Ala94", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163877026", "evidence": [ { "id": "rs264332252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264332252" } ] } ] } ], "record_id": "batch.mouse.1" }, { "uniprot_canonical_ac": "Q05512-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 776, "chemical_mass": 86306.0, "gene_names": "Mark2;EMK-1;Emk;Mark2;Par-1b;Par-1", "protein_name": "Serine/threonine-protein kinase MARK2", "disease": [ { "disease_id": "DOID:0070356", "name": "visual impairment and progressive phthisis bulbi", "description": "An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3.", "url": "https://disease-ontology.org/term/DOID:0070356", "evidence": [ { "id": "0070356", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070356" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "basal cortex", "id": "GO:0045180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045180", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "plasma membrane", 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"name": "positive regulation of blood vessel branching", "id": "GO:1905555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905555", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "behavioral fear response", "id": "GO:0001662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001662", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "tissue regeneration", "id": "GO:0042246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042246", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "positive regulation of neural precursor cell proliferation", "id": "GO:2000179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000179", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "estrous cycle", "id": "GO:0044849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044849", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell chemotaxis", "id": "GO:0071673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071673", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "positive regulation of leukocyte chemotaxis", "id": "GO:0002690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002690", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "regulation of chondrocyte differentiation", "id": "GO:0032330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032330", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell apoptotic process", "id": "GO:0010667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010667", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte proliferation", "id": "GO:0010838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010838", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "negative regulation of regulatory T cell differentiation", "id": "GO:0045590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045590", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "dentate gyrus development", "id": "GO:0021542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021542", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "positive regulation of T cell differentiation", "id": "GO:0045582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045582", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "positive regulation of cartilage development", "id": "GO:0061036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061036", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "positive regulation of neutrophil chemotaxis", "id": "GO:0090023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090023", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "T cell activation involved in immune response", "id": "GO:0002286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002286", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "leukocyte chemotaxis involved in inflammatory response", "id": "GO:0002232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002232", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "positive regulation of neuron migration", "id": "GO:2001224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001224", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "regulation of bone remodeling", "id": "GO:0046850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046850", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "defecation", "id": "GO:0030421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030421", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "positive regulation of 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"https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "glial cell projection elongation", "id": "GO:0106091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106091", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": "https://www.uniprot.org/uniprotkb/P12025" } ], "pmid": "" } ], "molecular_function": [ { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P12025", "url": 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"predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 790, "start_aa": "Thr", "end_pos": 790, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr790", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "926", "end_pos": "926", "site_lbl": "Asn926", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 926, "start_aa": "Asn", "end_pos": 926, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn926", "evidence": [ { "id": "Q61830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61830#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "930", "end_pos": "930", "site_lbl": "Asn930", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 930, "start_aa": "Asn", "end_pos": 930, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn930", "evidence": [ { "id": "Q61830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61830#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "1140", "end_pos": "1140", "site_lbl": "Phe1140", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NAF->NAS); glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14324083", "evidence": [ { "id": "rs1132605478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132605478" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "1002", "end_pos": "1002", "site_lbl": "Ser1002", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14320071", "evidence": [ { "id": "rs3388529417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388529417" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "1015", "end_pos": "1015", "site_lbl": "Ala1015", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14320110", "evidence": [ { "id": "rs27122832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27122832" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "1023", "end_pos": "1023", "site_lbl": "Ala1023", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14320135", "evidence": [ { "id": "rs241881939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241881939" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Asp105", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14243190", "evidence": [ { "id": "rs3388530179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388530179" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "1071", "end_pos": "1071", "site_lbl": "Asp1071", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14321721", "evidence": [ { "id": "rs253804774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253804774" } ] }, { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14321720", "evidence": [ { "id": "rs3412891008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412891008" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Leu107", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14243194", "evidence": [ { "id": "rs3391272198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391272198" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Ile10", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14234351", "evidence": [ { "id": "rs3388530740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388530740" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "1135", "end_pos": "1135", "site_lbl": "Pro1135", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14324068", "evidence": [ { "id": "rs1133666289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133666289" } ] }, { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14324067", "evidence": [ { "id": "rs1133091249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133091249" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "1136", "end_pos": "1136", "site_lbl": "Tyr1136", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14324070", "evidence": [ { "id": "rs864261034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864261034" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "1141", "end_pos": "1141", "site_lbl": "Ala1141", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14324086", "evidence": [ { "id": "rs1132924972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132924972" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Asn118", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14243229", "evidence": [ { "id": "rs3388531229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388531229" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "1196", "end_pos": "1196", "site_lbl": "Gly1196", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14326690", "evidence": [ { "id": "rs3388527763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388527763" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Asn121", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14243236", "evidence": [ { "id": "rs3388526509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388526509" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Gln123", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14243242", "evidence": [ { "id": "rs3388528938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388528938" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "1274", "end_pos": "1274", "site_lbl": "Thr1274", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14332622", "evidence": [ { "id": "rs238021818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238021818" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "1317", "end_pos": "1317", "site_lbl": "Val1317", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14333269", "evidence": [ { "id": "rs1131716800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131716800" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "1318", "end_pos": "1318", "site_lbl": "Asn1318", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14333272", "evidence": [ { "id": "rs1134373448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134373448" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "1372", "end_pos": "1372", "site_lbl": "Lys1372", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14334734", "evidence": [ { "id": "rs3388531298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388531298" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "1393", "end_pos": "1393", "site_lbl": "Thr1393", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14335793", "evidence": [ { "id": "rs217161720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217161720" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Lys140", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14243293", "evidence": [ { "id": "rs3388531270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388531270" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Gly190", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14249034", "evidence": [ { "id": "rs3388529060", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388529060" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Gly215", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14253624", "evidence": [ { "id": "rs3388531575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388531575" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Asn221", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14253641", "evidence": [ { "id": "rs3388528922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388528922" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "241", "end_pos": "241", "site_lbl": "His241", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14253703", "evidence": [ { "id": "rs3388531199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388531199" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Gln242", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14253706", "evidence": [ { "id": "rs3388529432", "database": "dbSNP", "url": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388531271" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Phe25", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14242949", "evidence": [ { "id": "rs3388531178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388531178" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Trp278", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14261844", "evidence": [ { "id": "rs3388531181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388531181" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Arg287", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14261871", "evidence": [ { "id": "rs262113673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262113673" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Ser288", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14261875", "evidence": [ { "id": "rs49562435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49562435" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Phe298", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14261906", "evidence": [ { "id": "rs1133732010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133732010" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Tyr300", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14261912", "evidence": [ { "id": "rs3388532733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388532733" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Gly313", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14266021", "evidence": [ { "id": "rs1132850967", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132850967" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Met433", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14274999", "evidence": [ { "id": "rs3388531114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388531114" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Gln45", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14243009", "evidence": [ { "id": "rs3388528461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388528461" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ala47", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14243015", "evidence": [ { "id": "rs3388531135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388531135" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Ser490", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14276135", "evidence": [ { "id": "rs3388525323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388525323" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "494", "end_pos": "494", "site_lbl": "Ala494", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14276148", "evidence": [ { "id": "rs3388525316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388525316" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Leu4", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14234334", "evidence": [ { "id": "rs257052982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257052982" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "513", "end_pos": "513", "site_lbl": "Phe513", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14281118", "evidence": [ { "id": "rs3388529412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388529412" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Lys536", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14281186", "evidence": [ { "id": "rs3391259299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391259299" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Gln548", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14284656", "evidence": [ { "id": "rs3388524506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388524506" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Lys561", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14284694", "evidence": [ { "id": "rs3388526581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388526581" } ] }, { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14284695", "evidence": [ { "id": "rs3388531552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388531552" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "592", "end_pos": "592", "site_lbl": "Asp592", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14284786", "evidence": [ { "id": "rs27137672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27137672" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Arg59", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14243050", "evidence": [ { "id": "rs3388526753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388526753" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "616", "end_pos": "616", "site_lbl": "Ser616", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14293860", "evidence": [ { "id": "rs3388527773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388527773" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Asp63", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14243062", "evidence": [ { "id": "rs3388524499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388524499" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Lys645", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14293948", "evidence": [ { "id": "rs3388529416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388529416" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "663", "end_pos": "663", "site_lbl": "Tyr663", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14297333", "evidence": [ { "id": "rs3388530803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388530803" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Lys667", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14297347", "evidence": [ { "id": "rs3388532734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388532734" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "718", "end_pos": "718", "site_lbl": "Thr718", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14298297", "evidence": [ { "id": "rs3391331022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391331022" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "719", "end_pos": "719", "site_lbl": "Tyr719", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14298302", "evidence": [ { "id": "rs3391331134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391331134" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "720", "end_pos": "720", "site_lbl": "Gly720", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14298304", "evidence": [ { "id": "rs3391293929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391293929" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "727", "end_pos": "727", "site_lbl": "Thr727", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14298324", "evidence": [ { "id": "rs3391279017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391279017" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "729", "end_pos": "729", "site_lbl": "Ser729", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14298330", "evidence": [ { "id": "rs3391036796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391036796" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Cys74", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14243096", "evidence": [ { "id": "rs3388526771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388526771" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "753", "end_pos": "753", "site_lbl": "Cys753", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14299668", "evidence": [ { "id": "rs3388525247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388525247" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "763", "end_pos": "763", "site_lbl": "Ser763", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14299699", "evidence": [ { "id": "rs3388528495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388528495" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "770", "end_pos": "770", "site_lbl": "Glu770", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14299720", "evidence": [ { "id": "rs3388530742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388530742" } ] }, { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14299720", "evidence": [ { "id": "rs3388530742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388530742" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "793", "end_pos": "793", "site_lbl": "Pro793", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14308954", "evidence": [ { "id": "rs3388530791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388530791" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "817", "end_pos": "817", "site_lbl": "Glu817", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14310191", "evidence": [ { "id": "rs3388531287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388531287" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "836", "end_pos": "836", "site_lbl": "Ala836", "weight": 0.0, "snv": [ { "sequence_org": 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"evidence": [ { "id": "rs3389212977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389212977" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "633", "end_pos": "633", "site_lbl": "Asn633", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 633, "start_aa": "Asn", "end_pos": 633, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn633", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2240", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2240" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Thr64", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 64, "start_aa": "Thr", "end_pos": 64, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr64", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "661", "end_pos": "661", "site_lbl": "Thr661", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 661, "start_aa": "Thr", "end_pos": 661, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr661", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Asn68", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G10486CT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VTPVCNASLPAQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 68, "start_aa": "Asn", "end_pos": 68, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn68", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1061", "end_pos": "1061", "site_lbl": "Glu1061", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105237378", "evidence": [ { "id": "rs3389210183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389210183" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1063", "end_pos": "1063", "site_lbl": "Ser1063", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105237385", "evidence": [ { "id": "rs3389196673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389196673" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1081", "end_pos": "1081", "site_lbl": "Leu1081", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105237564", "evidence": [ { "id": "rs3389179245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389179245" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1083", "end_pos": "1083", "site_lbl": "Ser1083", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105237570", "evidence": [ { "id": "rs3389183556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389183556" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Cys111", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105216544", "evidence": [ { "id": "rs3389208468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389208468" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1122", "end_pos": "1122", "site_lbl": "Pro1122", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105238094", "evidence": [ { "id": "rs215374171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215374171" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1181", "end_pos": "1181", "site_lbl": "Pro1181", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105238270", "evidence": [ { "id": "rs3389220333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389220333" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1195", "end_pos": "1195", "site_lbl": "Tyr1195", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105238439", "evidence": [ { "id": "rs3402861377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402861377" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1200", "end_pos": "1200", "site_lbl": "Glu1200", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105238453", "evidence": [ { "id": "rs3548927053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3548927053" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1205", "end_pos": "1205", "site_lbl": "Tyr1205", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105238469", "evidence": [ { "id": "rs3389179322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389179322" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1215", "end_pos": "1215", "site_lbl": "His1215", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105238499", "evidence": [ { "id": "rs221362552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221362552" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1235", "end_pos": "1235", "site_lbl": "Thr1235", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105238558", "evidence": [ { "id": "rs243948215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243948215" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1254", "end_pos": "1254", "site_lbl": "Asn1254", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105238707", "evidence": [ { "id": "rs246061252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246061252" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1256", "end_pos": "1256", "site_lbl": "Arg1256", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105238713", "evidence": [ { "id": "rs3389206571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389206571" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1271", "end_pos": "1271", "site_lbl": "Phe1271", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105238758", "evidence": [ { "id": "rs3402813415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402813415" } ] }, { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105238759", "evidence": [ { "id": "rs3402813454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402813454" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1279", "end_pos": "1279", "site_lbl": "His1279", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105238782", "evidence": [ { "id": "rs3389213003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389213003" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1293", "end_pos": "1293", "site_lbl": "Cys1293", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105238824", "evidence": [ { "id": "rs3389212051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389212051" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1297", "end_pos": "1297", "site_lbl": "Gly1297", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105239136", "evidence": [ { "id": "rs3389210208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389210208" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1366", "end_pos": "1366", "site_lbl": "Ser1366", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105239513", "evidence": [ { "id": "rs3402861310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402861310" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1379", "end_pos": "1379", "site_lbl": "Pro1379", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105239553", "evidence": [ { "id": "rs3389183548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389183548" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Ala140", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105216630", "evidence": [ { "id": "rs3389209754", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389209754" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1459", "end_pos": "1459", "site_lbl": "Pro1459", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105240686", "evidence": [ { "id": "rs3402741963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402741963" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "1467", "end_pos": "1467", "site_lbl": "Ile1467", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105240710", "evidence": [ { "id": "rs3389208467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389208467" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Ser154", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105216674", "evidence": [ { "id": "rs3389224506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389224506" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Pro170", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105216720", "evidence": [ { "id": "rs3389212939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389212939" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Asp207", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105218900", "evidence": [ { "id": "rs3389209777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389209777" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Cys265", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105219204", "evidence": [ { "id": "rs3389183576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389183576" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Thr294", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105219513", "evidence": [ { "id": "rs3389171816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389171816" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Lys317", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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"name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2280", "name": "hidradenitis suppurativa", "description": "A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation.", "url": "https://disease-ontology.org/term/DOID:2280", "evidence": [ { "id": "2280", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2280" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:4928", "name": "intrahepatic cholangiocarcinoma", "description": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "enterobactin binding", "id": "GO:1903981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903981", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "iron ion sequestering activity", "id": "GO:0140315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140315", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "small molecule binding", "id": "GO:0036094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036094", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "cytoplasmic vesicle lumen", "id": "GO:0060205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060205", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "short-term memory", "id": "GO:0007614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007614", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species metabolic process", "id": "GO:2000379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000379", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "response to iron(II) ion", "id": "GO:0010040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010040", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species biosynthetic process", "id": "GO:1903428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903428", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:0097192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097192", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "response to herbicide", "id": "GO:0009635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009635", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "positive regulation of iron ion import across plasma membrane", "id": "GO:1904440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904440", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "cellular response to increased oxygen levels", "id": "GO:0036295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036295", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "response to fructose", "id": "GO:0009750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009750", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "response to kainic acid", "id": "GO:1904373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904373", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "cellular response to X-ray", "id": "GO:0071481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071481", "evidence": [ { "database": "UniProtKB", "id": "P11672", "url": "https://www.uniprot.org/uniprotkb/P11672" } ], "pmid": "" }, { "name": "siderophore transport", "id": "GO:0015891", "url": 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"https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9263", "name": "homocystinuria", "description": "An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.", "url": "https://disease-ontology.org/term/DOID:9263", "evidence": [ { "id": "9263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9263" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" }, { "name": "intermediate filament cytoskeleton", "id": "GO:0045111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045111", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" } ], "molecular_function": [ { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" }, { "name": "NADPH binding", "id": "GO:0070402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070402", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" }, { "name": "FMN binding", "id": "GO:0010181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010181", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" }, { "name": "NADPH-hemoprotein reductase activity", "id": "GO:0003958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003958", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on metal ions, NAD or NADP as acceptor", "id": "GO:0016723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016723", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" }, { "name": "[methionine synthase] reductase (NADPH) activity", "id": "GO:0030586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030586", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" }, { "name": "molecular carrier activity", "id": "GO:0140104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140104", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" } ], "biological_process": [ { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" }, { "name": "cobalamin metabolic process", "id": "GO:0009235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009235", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" }, { "name": "folic acid metabolic process", "id": "GO:0046655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046655", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" }, { "name": "homocysteine catabolic process", "id": "GO:0043418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043418", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" }, { "name": "methionine biosynthetic process", "id": "GO:0009086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009086", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" }, { "name": "homocysteine metabolic process", "id": "GO:0050667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050667", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" }, { "name": "S-adenosylmethionine cycle", "id": "GO:0033353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033353", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C1A3-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Ser171", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" } ] } ] }, { "uniprot_canonical_ac": "Q8C1A3-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Ser188", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C1A3", "url": "https://www.uniprot.org/uniprotkb/Q8C1A3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C1A3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C1A3" } ] } ] } ], "record_id": "batch.mouse.1" }, { "uniprot_canonical_ac": "Q02496-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q02496", "url": "https://www.uniprot.org/uniprotkb/Q02496" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 630, "chemical_mass": 64539.0, "gene_names": "Muc1;CD227;EMA;Muc-1;Muc1", "protein_name": "Mucin-1", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050625", "name": "biliary tract benign neoplasm", "description": "A hepatobiliary benign neoplasm located_in the biliary tract.", "url": "https://disease-ontology.org/term/DOID:0050625", "evidence": [ { "id": "0050625", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050625" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0061118", "name": "autosomal dominant tubulointerstitial kidney disease 2", "description": "An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0061118", "evidence": [ { "id": "0061118", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061118" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID:11339", "name": "pneumocystosis", "description": "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:11339", "evidence": [ { "id": "11339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11339" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:13891", "name": "bird fancier's lung", "description": "An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen.", "url": "https://disease-ontology.org/term/DOID:13891", "evidence": [ { "id": "13891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13891" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3030", "name": "mucinous adenocarcinoma", "description": "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.", "url": "https://disease-ontology.org/term/DOID:3030", "evidence": [ { "id": "3030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3030" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3458", "name": "breast adenocarcinoma", "description": "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.", "url": "https://disease-ontology.org/term/DOID:3458", "evidence": [ { "id": "3458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3458" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:4608", "name": "common bile duct neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:4608", "evidence": [ { "id": "4608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4608" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). 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mutations in the DMD gene found on the X chromosome. 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The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 }, { "disease_id": "DOID:17", "name": "musculoskeletal system disease", "description": "A disease of anatomical entity that occurs in the muscular and/or skeletal system.", "url": "https://disease-ontology.org/term/DOID:17", "evidence": [ { "id": "17", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:17" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of myotube differentiation", "id": "GO:0010831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010831", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "striated muscle atrophy", "id": "GO:0014891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014891", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "response to denervation involved in regulation of muscle adaptation", "id": "GO:0014894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014894", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "negative regulation of glycolytic process", "id": "GO:0045820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045820", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071392", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "regulation of skeletal muscle satellite cell proliferation", "id": "GO:0014842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014842", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "response to muscle activity involved in regulation of muscle adaptation", "id": "GO:0014873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014873", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "muscle cell differentiation", "id": "GO:0042692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042692", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "positive regulation of oxidative phosphorylation", "id": "GO:1903862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903862", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "myotube differentiation", "id": "GO:0014902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014902", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "response to electrical stimulus involved in regulation of muscle adaptation", "id": "GO:0014878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014878", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle fiber development", "id": "GO:0048743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048743", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "cellular response to lithium ion", "id": "GO:0071285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071285", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "positive regulation of muscle atrophy", "id": "GO:0014737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014737", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "regulation of myoblast fusion", "id": "GO:1901739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901739", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "E-box binding", "id": "GO:0070888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity", "id": "GO:0001216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001216", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" }, { "name": "protein-DNA complex", "id": "GO:0032993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032993", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P12979-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Thr193", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 193, "start_aa": "Thr", "end_pos": 193, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr193", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P12979-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ] } ] }, { "uniprot_canonical_ac": "P12979-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Ser79", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" } ] } ] }, { "uniprot_canonical_ac": "P12979-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Thr87", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P12979", "url": "https://www.uniprot.org/uniprotkb/P12979" }, { "database": "iPTMnet", "id": "P12979", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12979" }, { "database": "PubMed", "id": "14966278", "url": "https://glygen.org/publication/PubMed/14966278" } ] } ] }, { "uniprot_canonical_ac": "P12979-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Ala100", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEA->NET).", "chr_id": "1", "chr_pos": "134218091", "evidence": [ { "id": "rs3388499663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388499663" } ] } ] } ], "record_id": "batch.mouse.1" }, { "uniprot_canonical_ac": "P13541-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P13541", "url": 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"weight": 0.0 }, { "disease_id": "DOID:0080326", "name": "familial hypertrophic cardiomyopathy", "description": "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations.", "url": "https://disease-ontology.org/term/DOID:0080326", "evidence": [ { "id": "0080326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080326" } ], "weight": 0.0 }, { "disease_id": "DOID:0080719", "name": "congenital myopathy 6", "description": "A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0080719", "evidence": [ { "id": "0080719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080719" } ], "weight": 0.0 }, { "disease_id": "DOID:0081321", "name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A", "description": "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0081321", "evidence": [ { "id": "0081321", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081321" } ], "weight": 0.0 }, { "disease_id": "DOID:0081322", "name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B", "description": "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0081322", "evidence": [ { "id": "0081322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081322" } ], "weight": 0.0 }, { "disease_id": "DOID:0110454", "name": "dilated cardiomyopathy 1S", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12.", "url": "https://disease-ontology.org/term/DOID:0110454", "evidence": [ { "id": "0110454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110454" } ], "weight": 0.0 }, { "disease_id": "DOID:0111269", "name": "autosomal dominant hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2.", "url": "https://disease-ontology.org/term/DOID:0111269", "evidence": [ { "id": "0111269", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111269" } ], "weight": 0.0 }, { "disease_id": "DOID:0111596", "name": "distal arthrogryposis type 1", "description": "A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies.", "url": "https://disease-ontology.org/term/DOID:0111596", "evidence": [ { "id": "0111596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111596" } ], "weight": 0.0 }, { "disease_id": "DOID:0111599", "name": "distal arthrogryposis type 2B", "description": "A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.", "url": "https://disease-ontology.org/term/DOID:0111599", "evidence": [ { "id": "0111599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111599" } ], "weight": 0.0 }, { "disease_id": "DOID:0111602", "name": "distal arthrogryposis type 2B3", "description": "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.", "url": "https://disease-ontology.org/term/DOID:0111602", "evidence": [ { "id": "0111602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111602" } ], "weight": 0.0 }, { "disease_id": "DOID:0111605", "name": "distal arthrogryposis type 2A", "description": "A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.", "url": "https://disease-ontology.org/term/DOID:0111605", "evidence": [ { "id": "0111605", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111605" } ], "weight": 0.0 }, { "disease_id": "DOID:11720", "name": "distal myopathy", "description": "A 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proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. 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"https://www.uniprot.org/uniprotkb/O55234" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O55234", "url": "https://www.uniprot.org/uniprotkb/O55234" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O55234", "url": "https://www.uniprot.org/uniprotkb/O55234" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O55234", "url": "https://www.uniprot.org/uniprotkb/O55234" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "O55234", "url": "https://www.uniprot.org/uniprotkb/O55234" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O55234", "url": "https://www.uniprot.org/uniprotkb/O55234" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "O55234", "url": "https://www.uniprot.org/uniprotkb/O55234" } ], "pmid": "" }, { "name": "proteasome complex", "id": "GO:0000502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000502", "evidence": [ { "database": "UniProtKB", "id": "O55234", "url": "https://www.uniprot.org/uniprotkb/O55234" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "O55234", "url": "https://www.uniprot.org/uniprotkb/O55234" } ], "pmid": "" }, { "name": "proteasome core complex", "id": "GO:0005839", "url": 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0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P0DJF2", "url": "https://www.uniprot.org/uniprotkb/P0DJF2" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial respiratory chain complex IV assembly", "id": "GO:0033617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033617", "evidence": [ { "database": "UniProtKB", "id": "P0DJF2", "url": "https://www.uniprot.org/uniprotkb/P0DJF2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.1" }, { "uniprot_canonical_ac": "P22858-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P22858", "url": "https://www.uniprot.org/uniprotkb/P22858" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 175, "chemical_mass": 20100.0, "gene_names": 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This results in expression of the Gs-alpha protein only from the paternal allele.", "url": "https://disease-ontology.org/term/DOID:0080053", "evidence": [ { "id": "0080053", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080053" } ], "weight": 0.0 }, { "disease_id": "DOID:0110976", "name": "brachydactyly type E2", "description": "A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p.", "url": "https://disease-ontology.org/term/DOID:0110976", "evidence": [ { "id": "0110976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110976" } ], "weight": 0.0 }, { "disease_id": "DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.", "url": "https://disease-ontology.org/term/DOID:4480", "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ], "weight": 0.0 } ], "biological_process": [ { "name": "mammary gland bud elongation", "id": "GO:0060649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060649", "evidence": [ { "database": "UniProtKB", "id": "P22858", "url": "https://www.uniprot.org/uniprotkb/P22858" } ], "pmid": "" }, { "name": "nipple sheath formation", "id": "GO:0060659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060659", "evidence": [ { "database": "UniProtKB", "id": "P22858", "url": "https://www.uniprot.org/uniprotkb/P22858" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", 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Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:12120", "name": "pulmonary alveolar proteinosis", "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.", "url": "https://disease-ontology.org/term/DOID:12120", "evidence": [ { "id": "12120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12120" } ], "weight": 0.0 }, { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P50405", "url": "https://www.uniprot.org/uniprotkb/P50405" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P50405", "url": "https://www.uniprot.org/uniprotkb/P50405" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P50405", "url": "https://www.uniprot.org/uniprotkb/P50405" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P50405", "url": "https://www.uniprot.org/uniprotkb/P50405" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P50405", "url": "https://www.uniprot.org/uniprotkb/P50405" } ], "pmid": "" }, { "name": "alveolar lamellar body", "id": "GO:0097208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097208", "evidence": [ { "database": "UniProtKB", "id": "P50405", "url": "https://www.uniprot.org/uniprotkb/P50405" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "P50405", "url": "https://www.uniprot.org/uniprotkb/P50405" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P50405", "url": "https://www.uniprot.org/uniprotkb/P50405" } ], "pmid": "" } ], "biological_process": [ { "name": "sphingolipid metabolic process", "id": "GO:0006665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006665", "evidence": [ { "database": "UniProtKB", "id": "P50405", "url": "https://www.uniprot.org/uniprotkb/P50405" } ], "pmid": "" }, { "name": "respiratory gaseous exchange by respiratory system", "id": "GO:0007585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007585", "evidence": [ { "database": "UniProtKB", "id": "P50405", "url": "https://www.uniprot.org/uniprotkb/P50405" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P50405-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Asn307", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 307, "start_aa": "Asn", "end_pos": 307, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn307", "evidence": [ { "id": "P50405", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P50405#ptm_processing" }, { "id": "PRU00415", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00415" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NTS->DTS); glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72287707", "evidence": [ { "id": "rs3388831105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388831105" } ] } ] }, { "uniprot_canonical_ac": "P50405-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Asn131", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72283797", "evidence": [ { "id": "rs3388839152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388839152" } ] } ] }, { "uniprot_canonical_ac": "P50405-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Ala134", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72283804", "evidence": [ { "id": "rs3544578828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544578828" } ] }, { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72283805", "evidence": [ { "id": "rs3544532507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544532507" } ] } ] }, { "uniprot_canonical_ac": "P50405-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Leu141", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72283826", "evidence": [ { "id": "rs3396916064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396916064" } ] } ] }, { "uniprot_canonical_ac": "P50405-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Arg144", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72283835", "evidence": [ { "id": "rs3396739489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396739489" } ] } ] }, { "uniprot_canonical_ac": "P50405-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Glu150", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72283853", "evidence": [ { "id": "rs3544419445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544419445" } ] } ] }, { "uniprot_canonical_ac": "P50405-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Met155", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72283867", "evidence": [ { "id": "rs3544532708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544532708" } ] } ] }, { "uniprot_canonical_ac": "P50405-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Asp157", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72283874", "evidence": [ { "id": "rs3544419460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544419460" } ] } ] }, { "uniprot_canonical_ac": "P50405-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Ala178", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72283936", "evidence": [ { "id": "rs3544459109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544459109" } ] } ] }, { "uniprot_canonical_ac": "P50405-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Val209", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72284208", "evidence": [ { "id": "rs3388843188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388843188" } ] } ] }, { "uniprot_canonical_ac": "P50405-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Ser223", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72286761", "evidence": [ { "id": "rs3544488270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544488270" } ] } ] }, { "uniprot_canonical_ac": "P50405-1", "start_pos": "227", "end_pos": "227", "site_lbl": "His227", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72286774", "evidence": [ { "id": "rs3544579136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544579136" } ] } ] }, { "uniprot_canonical_ac": "P50405-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Cys239", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72286810", "evidence": [ { "id": "rs3388822784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388822784" } ] } ] }, { "uniprot_canonical_ac": "P50405-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Glu271", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72286905", "evidence": [ { "id": "rs3388801998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801998" } ] } ] }, { "uniprot_canonical_ac": "P50405-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Pro283", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72287636", "evidence": [ { "id": "rs3544455962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544455962" } ] } ] }, { "uniprot_canonical_ac": "P50405-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Trp288", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "6", "chr_pos": "72287650", "evidence": [ { "id": "rs3388835630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388835630" } ] } ] }, { "uniprot_canonical_ac": "P50405-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Ser349", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080379", "name": "nephrotic syndrome type 2", "description": "A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31.", "url": "https://disease-ontology.org/term/DOID:0080379", "evidence": [ { "id": "0080379", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080379" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.", "url": "https://disease-ontology.org/term/DOID:12554", "evidence": [ { "id": "12554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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"https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0034638", "evidence": [ { "database": "UniProtKB", "id": "Q60963", "url": "https://www.uniprot.org/uniprotkb/Q60963" } ], "pmid": "" }, { "name": "lipid oxidation", "id": "GO:0034440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034440", "evidence": [ { "database": "UniProtKB", "id": "Q60963", "url": "https://www.uniprot.org/uniprotkb/Q60963" } ], "pmid": "" }, { "name": "plasma lipoprotein particle oxidation", "id": "GO:0034441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034441", "evidence": [ { "database": "UniProtKB", "id": "Q60963", "url": "https://www.uniprot.org/uniprotkb/Q60963" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q60963", "url": "https://www.uniprot.org/uniprotkb/Q60963" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotaxis", "id": "GO:0090026", "url": 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"id": "GO:0009395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009395", "evidence": [ { "database": "UniProtKB", "id": "Q60963", "url": "https://www.uniprot.org/uniprotkb/Q60963" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q60963", "url": "https://www.uniprot.org/uniprotkb/Q60963" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "Q60963", "url": "https://www.uniprot.org/uniprotkb/Q60963" } ], "pmid": "" }, { "name": "phospholipase A2 activity", "id": "GO:0004623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004623", "evidence": [ { "database": "UniProtKB", "id": "Q60963", "url": "https://www.uniprot.org/uniprotkb/Q60963" } ], "pmid": "" }, { "name": "1-alkyl-2-acetylglycerophosphocholine 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], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.10" }, { "uniprot_canonical_ac": "P86547-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P86547", "url": "https://www.uniprot.org/uniprotkb/P86547" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 95, "chemical_mass": 10459.0, "gene_names": "Bglap2;BGP2;Bglap1;Bglap2;Bgp;Og2;mOC-B", "protein_name": "Osteocalcin-2", "disease": [ { "disease_id": "DOID:0050328", "name": "congenital hypothyroidism", "description": "A hypothyroidism that is present at birth.", "url": "https://disease-ontology.org/term/DOID:0050328", "evidence": [ { "id": "0050328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050328" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is 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organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:11249", "name": "vitamin K deficiency bleeding", "description": "A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications.", "url": "https://disease-ontology.org/term/DOID:11249", "evidence": [ { "id": "11249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11249" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": 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"biomarkers": [], "sites": [], "record_id": "batch.mouse.10" }, { "uniprot_canonical_ac": "Q09098-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q09098", "url": "https://www.uniprot.org/uniprotkb/Q09098" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 99, "chemical_mass": 11058.0, "gene_names": "Pate4;9530004K16Rik;Pate-B;Pate4;Svs7", "protein_name": "Prostate and testis expressed protein 4", "disease": [], "molecular_function": [ { "name": "acetylcholine receptor regulator activity", "id": "GO:0030548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030548", "evidence": [ { "database": "UniProtKB", "id": "Q09098", "url": "https://www.uniprot.org/uniprotkb/Q09098" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q09098", "url": 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"molecular_function": [ { "name": "muscle alpha-actinin binding", "id": "GO:0051371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051371", "evidence": [ { "database": "UniProtKB", "id": "Q3TJD7", "url": "https://www.uniprot.org/uniprotkb/Q3TJD7" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q3TJD7", "url": "https://www.uniprot.org/uniprotkb/Q3TJD7" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q3TJD7", "url": "https://www.uniprot.org/uniprotkb/Q3TJD7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3TJD7", "url": "https://www.uniprot.org/uniprotkb/Q3TJD7" } ], "pmid": "" }, { "name": 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"Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54570087", "evidence": [ { "id": "rs3389992771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389992771" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Phe325", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54570073", "evidence": [ { "id": "rs1131722276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131722276" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Glu334", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54570045", "evidence": [ { "id": "rs1135120980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135120980" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Glu335", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54570041", "evidence": [ { "id": "rs1132861259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132861259" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Ser338", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54570033", "evidence": [ { "id": "rs1133997458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133997458" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Tyr381", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54567703", "evidence": [ { "id": "rs3388470969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388470969" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Ser388", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54567682", "evidence": [ { "id": "rs3388470011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388470011" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Gln431", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54560509", "evidence": [ { "id": "rs3388471364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388471364" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Leu477", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54552002", "evidence": [ { "id": "rs3388471295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388471295" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Thr486", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54551974", "evidence": [ { "id": "rs3388470406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388470406" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Asn487", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54551972", "evidence": [ { "id": "rs3388471054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388471054" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "494", "end_pos": "494", "site_lbl": "Glu494", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54551950", "evidence": [ { "id": "rs3388471944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388471944" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Leu526", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54551103", "evidence": [ { "id": "rs3412117813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412117813" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "564", "end_pos": "564", "site_lbl": "Leu564", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54550591", "evidence": [ { "id": "rs3388469946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388469946" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "588", "end_pos": "588", "site_lbl": "Gly588", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54549191", "evidence": [ { "id": "rs3388471296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388471296" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Val602", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54536750", "evidence": [ { "id": "rs5524842007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5524842007" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Gly612", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54536720", "evidence": [ { "id": "rs3388471934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388471934" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "648", "end_pos": "648", "site_lbl": "Phe648", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54533969", "evidence": [ { "id": "rs3388469302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388469302" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Thr703", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54532410", "evidence": [ { "id": "rs260443830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260443830" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "714", "end_pos": "714", "site_lbl": "Ala714", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54532378", "evidence": [ { "id": "rs3388470091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388470091" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "782", "end_pos": "782", "site_lbl": "Lys782", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54525809", "evidence": [ { "id": "rs240916363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240916363" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "791", "end_pos": "791", "site_lbl": "Ser791", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54525782", "evidence": [ { "id": "rs3390002332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390002332" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "796", "end_pos": "796", "site_lbl": "Asp796", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54525767", "evidence": [ { "id": "rs3388469903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388469903" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "812", "end_pos": "812", "site_lbl": "Ser812", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54525719", "evidence": [ { "id": "rs3388471096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388471096" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "819", "end_pos": "819", "site_lbl": "Val819", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54525698", "evidence": [ { "id": "rs3388469560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388469560" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "873", "end_pos": "873", "site_lbl": "Ser873", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54521024", "evidence": [ { "id": "rs1133665477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133665477" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "886", "end_pos": "886", "site_lbl": "Phe886", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54519978", "evidence": [ { "id": "rs1133154019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133154019" } ] } ] }, { "uniprot_canonical_ac": "Q3UUQ7-1", "start_pos": "908", "end_pos": "908", "site_lbl": "Phe908", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "54519912", "evidence": [ { "id": "rs3539202506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539202506" } ] } ] } ], "record_id": "batch.mouse.10" }, { "uniprot_canonical_ac": "Q3UW31-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UW31", "url": "https://www.uniprot.org/uniprotkb/Q3UW31" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 111, "chemical_mass": 13068.0, "gene_names": "Pate2;Gm846;Pate-M;Pate2;mANLP1", "protein_name": "Prostate and testis expressed protein 2", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q3UW31", "url": "https://www.uniprot.org/uniprotkb/Q3UW31" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.10" }, { "uniprot_canonical_ac": "Q50L41-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q50L41", "url": "https://www.uniprot.org/uniprotkb/Q50L41" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 855, "chemical_mass": 96364.0, "gene_names": "Pla2g4f;4732472I07Rik;Gm647;Pla2g4f;Pla2zeta", "protein_name": "Cytosolic phospholipase A2 zeta", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q50L41", "url": "https://www.uniprot.org/uniprotkb/Q50L41" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q50L41", "url": "https://www.uniprot.org/uniprotkb/Q50L41" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q50L41", "url": "https://www.uniprot.org/uniprotkb/Q50L41" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q50L41", "url": "https://www.uniprot.org/uniprotkb/Q50L41" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "Q50L41", "url": "https://www.uniprot.org/uniprotkb/Q50L41" } ], "pmid": "" } ], "biological_process": [ { "name": "arachidonate secretion", "id": "GO:0050482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050482", "evidence": [ { "database": "UniProtKB", "id": "Q50L41", "url": "https://www.uniprot.org/uniprotkb/Q50L41" } ], "pmid": "" }, { "name": "fatty acid transport", "id": "GO:0015908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015908", "evidence": [ { "database": "UniProtKB", "id": "Q50L41", "url": "https://www.uniprot.org/uniprotkb/Q50L41" } ], "pmid": "" }, { "name": "glycerophospholipid catabolic process", "id": "GO:0046475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046475", "evidence": [ { 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241628525" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1063", "end_pos": "1063", "site_lbl": "Ile1063", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60262408", "evidence": [ { "id": "rs216157599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216157599" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1066", "end_pos": "1066", "site_lbl": "Cys1066", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60262399", "evidence": [ { "id": "rs3388554083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554083" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1074", "end_pos": "1074", "site_lbl": "Asn1074", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60262375", "evidence": [ { "id": "rs3388546754", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388546754" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1111", "end_pos": "1111", "site_lbl": "Thr1111", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60259055", "evidence": [ { "id": "rs3388554078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554078" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1156", "end_pos": "1156", "site_lbl": "His1156", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60258920", "evidence": [ { "id": "rs28003033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28003033" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1192", "end_pos": "1192", "site_lbl": "Ser1192", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60258103", "evidence": [ { "id": "rs3388550381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550381" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1196", "end_pos": "1196", "site_lbl": "Tyr1196", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60258091", "evidence": [ { "id": "rs3388556451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556451" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1216", "end_pos": "1216", "site_lbl": "Arg1216", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60258030", "evidence": [ { "id": "rs28003040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28003040" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1220", "end_pos": "1220", "site_lbl": "Thr1220", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60258018", "evidence": [ { "id": "rs220037088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220037088" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1224", "end_pos": "1224", "site_lbl": "Ser1224", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60258006", "evidence": [ { "id": "rs3388557518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388557518" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1227", "end_pos": "1227", "site_lbl": "Gln1227", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60257996", "evidence": [ { "id": "rs3388550467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550467" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1229", "end_pos": "1229", "site_lbl": "Ala1229", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60257992", "evidence": [ { "id": "rs28003041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28003041" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1254", "end_pos": "1254", "site_lbl": "Ile1254", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60255783", "evidence": [ { "id": "rs3411652401", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411652401" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1284", "end_pos": "1284", "site_lbl": "Ser1284", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60254716", "evidence": [ { "id": "rs3388554961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554961" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1292", "end_pos": "1292", "site_lbl": "Ala1292", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60254692", "evidence": [ { "id": "rs3540347378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3540347378" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1313", "end_pos": "1313", "site_lbl": "Trp1313", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60254629", "evidence": [ { "id": "rs3388553597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553597" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1322", "end_pos": "1322", "site_lbl": "Asn1322", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60253125", "evidence": [ { "id": "rs3391648614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391648614" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1351", "end_pos": "1351", "site_lbl": "His1351", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60253039", "evidence": [ { "id": "rs3540366581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3540366581" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1369", "end_pos": "1369", "site_lbl": "Glu1369", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60252985", "evidence": [ { "id": "rs3388556438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556438" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1370", "end_pos": "1370", "site_lbl": "Asp1370", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60252981", "evidence": [ { "id": "rs246937475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246937475" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1380", "end_pos": "1380", "site_lbl": "Ala1380", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60252952", "evidence": [ { "id": "rs3388556112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556112" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1384", "end_pos": "1384", "site_lbl": "Ala1384", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60250775", "evidence": [ { "id": "rs28024394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024394" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1396", "end_pos": "1396", "site_lbl": "Ser1396", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60250635", "evidence": [ { "id": "rs3391654509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391654509" } ] }, { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60250634", "evidence": [ { "id": "rs3391706537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391706537" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1397", "end_pos": "1397", "site_lbl": "Ile1397", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60250631", "evidence": [ { "id": "rs3391632914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391632914" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1399", "end_pos": "1399", "site_lbl": "Pro1399", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60250626", "evidence": [ { "id": "rs3391632922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391632922" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1402", "end_pos": "1402", "site_lbl": "Val1402", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60250616", "evidence": [ { "id": "rs3391670769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391670769" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1404", "end_pos": "1404", "site_lbl": "Leu1404", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60250611", "evidence": [ { "id": "rs3391518450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391518450" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Arg145", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60365135", "evidence": [ { "id": "rs1134500249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134500249" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "1477", "end_pos": "1477", "site_lbl": "Gly1477", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60250391", "evidence": [ { "id": "rs3388553750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553750" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Cys162", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60365084", "evidence": [ { "id": "rs3391575999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391575999" }, { "id": "rs3391644833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391644833" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "190", "end_pos": "190", "site_lbl": "His190", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60360817", "evidence": [ { "id": "rs217157164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217157164" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Leu204", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60360776", "evidence": [ { "id": "rs3391671827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391671827" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Thr210", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60360758", "evidence": [ { "id": "rs3388554126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554126" } ] }, { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60360758", "evidence": [ { "id": "rs3388554126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554126" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Glu214", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60360747", "evidence": [ { "id": "rs247904822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247904822" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Gly220", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60360728", "evidence": [ { "id": "rs3388553620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553620" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Phe221", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60360724", "evidence": [ { "id": "rs3388554185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554185" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Ser227", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60353280", "evidence": [ { "id": "rs3391644805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391644805" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Met228", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60353276", "evidence": [ { "id": "rs3391601151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391601151" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Arg243", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60353233", "evidence": [ { "id": "rs33322946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33322946" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60353232", "evidence": [ { "id": "rs264160632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264160632" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Ser252", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60353206", "evidence": [ { "id": "rs249671625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249671625" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Asp280", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60353121", "evidence": [ { "id": "rs108798627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs108798627" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "291", "end_pos": "291", "site_lbl": "Lys291", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60346023", "evidence": [ { "id": "rs3388555318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555318" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Trp306", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60345979", "evidence": [ { "id": "rs3388546734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388546734" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Gln307", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60345976", "evidence": [ { "id": "rs3388554180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554180" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Ile323", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60345387", "evidence": [ { "id": "rs3388550373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550373" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Gly334", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60345354", "evidence": [ { "id": "rs3388555361", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555361" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Val339", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60345339", "evidence": [ { "id": "rs28057094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28057094" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "376", "end_pos": "376", "site_lbl": "His376", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60334644", "evidence": [ { "id": "rs28057129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28057129" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Arg398", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60334578", "evidence": [ { "id": "rs28057130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28057130" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Thr439", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60332525", "evidence": [ { "id": "rs3388555328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555328" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Arg476", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60332414", "evidence": [ { "id": "rs3388557473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388557473" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Ser486", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60332385", "evidence": [ { "id": "rs3388550744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550744" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Trp490", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60327992", "evidence": [ { "id": "rs3388553588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553588" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Lys491", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60327989", "evidence": [ { "id": "rs3388557485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388557485" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Cys503", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60327954", "evidence": [ { "id": "rs3388554052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554052" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "514", "end_pos": "514", "site_lbl": "Gln514", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60327921", "evidence": [ { "id": "rs232622377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232622377" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Gly525", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60325696", "evidence": [ { "id": "rs28057146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28057146" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Ala550", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60325620", "evidence": [ { "id": "rs250274766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250274766" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "562", "end_pos": "562", "site_lbl": "Phe562", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60309897", "evidence": [ { "id": "rs3388550745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550745" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "588", "end_pos": "588", "site_lbl": "Gly588", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60309820", "evidence": [ { "id": "rs3388550405", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550405" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "589", "end_pos": "589", "site_lbl": "Glu589", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60309815", "evidence": [ { "id": "rs3388553701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553701" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "594", "end_pos": "594", "site_lbl": "Thr594", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60309802", "evidence": [ { "id": "rs244852354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244852354" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Trp606", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60309764", "evidence": [ { "id": "rs3388554051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554051" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "614", "end_pos": "614", "site_lbl": "Arg614", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60288790", "evidence": [ { "id": "rs5525488558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525488558" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "627", "end_pos": "627", "site_lbl": "Gly627", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60288751_60288752insTCCACACTACCTCAACCATCAC", "evidence": [ { "id": "rs3388554208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554208" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "636", "end_pos": "636", "site_lbl": "Asp636", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60288724", "evidence": [ { "id": "rs3388555315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555315" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "639", "end_pos": "639", "site_lbl": "Ala639", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60288716", "evidence": [ { "id": "rs5525506279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525506279" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "668", "end_pos": "668", "site_lbl": "Trp668", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60288629", "evidence": [ { "id": "rs3391670776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391670776" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "685", "end_pos": "685", "site_lbl": "Lys685", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60285559", "evidence": [ { "id": "rs3388550442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550442" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "697", "end_pos": "697", "site_lbl": "Ala697", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60285523", "evidence": [ { "id": "rs3388556119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556119" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ala6", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60383458", "evidence": [ { "id": "rs3388555353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555353" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Gly703", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60285506", "evidence": [ { "id": "rs3388558380", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388558380" } ] } ] }, { "uniprot_canonical_ac": "Q62028-1", "start_pos": "711", "end_pos": "711", "site_lbl": "His711", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60285482", "evidence": [ { "id": "rs3388554073", "database": "dbSNP", "url": 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"acetyltransferase activator activity", "id": "GO:0010698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010698", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E7", "url": "https://www.uniprot.org/uniprotkb/Q8K0E7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.10" }, { "uniprot_canonical_ac": "Q9WTN6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WTN6", "url": "https://www.uniprot.org/uniprotkb/Q9WTN6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 564, "chemical_mass": 63321.0, "gene_names": "Slc22a21;Octn3;Slc22a21;Slc22a9", "protein_name": "Solute carrier family 22 member 21", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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"url": "https://www.uniprot.org/uniprotkb/Q91WU2" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "Q91WU2", "url": "https://www.uniprot.org/uniprotkb/Q91WU2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q91WU2", "url": "https://www.uniprot.org/uniprotkb/Q91WU2" } ], "pmid": "" } ], "biological_process": [ { "name": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": "UniProtKB", "id": "Q91WU2", "url": "https://www.uniprot.org/uniprotkb/Q91WU2" } ], "pmid": "" }, { "name": "organic anion transport", "id": "GO:0015711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015711", "evidence": [ { "database": "UniProtKB", "id": "Q91WU2", "url": 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"evidence": [ { "database": "UniProtKB", "id": "P63042", "url": "https://www.uniprot.org/uniprotkb/P63042" } ], "pmid": "" }, { "name": "microtubule depolymerization", "id": "GO:0007019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007019", "evidence": [ { "database": "UniProtKB", "id": "P63042", "url": "https://www.uniprot.org/uniprotkb/P63042" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P63042", "url": "https://www.uniprot.org/uniprotkb/P63042" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P63042", "url": "https://www.uniprot.org/uniprotkb/P63042" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "P63042", "url": "https://www.uniprot.org/uniprotkb/P63042" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P63042", "url": "https://www.uniprot.org/uniprotkb/P63042" } ], "pmid": "" } ], "molecular_function": [ { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "P63042", "url": "https://www.uniprot.org/uniprotkb/P63042" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P63042-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Asn80", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CTSGQSFEVILKPPSFDGVPEFNASLPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 80, "start_aa": "Asn", "end_pos": 80, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn80", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "P63042-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Ser90", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P63042", "url": "https://www.uniprot.org/uniprotkb/P63042" } ] } ] } ], "record_id": "batch.mouse.10" }, { "uniprot_canonical_ac": "Q925E1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q925E1", "url": "https://www.uniprot.org/uniprotkb/Q925E1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 517, "chemical_mass": 57982.0, "gene_names": "Sntg1;4933426D16Rik;G1SYN;SYN4;Sntg1", "protein_name": "Gamma-1-syntrophin", "disease": [ { "disease_id": "DOID:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. 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The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "dystrophin-associated glycoprotein complex", "id": "GO:0016010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016010", "evidence": [ { "database": "UniProtKB", "id": "Q925E1", "url": "https://www.uniprot.org/uniprotkb/Q925E1" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q925E1", "url": "https://www.uniprot.org/uniprotkb/Q925E1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q925E1", "url": "https://www.uniprot.org/uniprotkb/Q925E1" } ], "pmid": "" }, { "name": 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combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2.", "url": "https://disease-ontology.org/term/DOID:0112137", "evidence": [ { "id": "0112137", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112137" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q14C51", "url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q14C51", "url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": 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"name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q14C51", "url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q14C51", "url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" }, { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q14C51", "url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" } ], "molecular_function": [ { "name": "ribosomal small subunit binding", "id": "GO:0043024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043024", "evidence": [ { "database": "UniProtKB", "id": "Q14C51", "url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" }, { "name": "rRNA binding", "id": "GO:0019843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019843", "evidence": [ { "database": "UniProtKB", "id": "Q14C51", "url": "https://www.uniprot.org/uniprotkb/Q14C51" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.10" }, { "uniprot_canonical_ac": "D3Z423-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3Z423", "url": "https://www.uniprot.org/uniprotkb/D3Z423" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 297, "chemical_mass": 32990.0, "gene_names": "Rnf212b;Gm10332;Gm30805;Rnf212b", "protein_name": "E3 ubiquitin-protein ligase RNF212B", "disease": [ { "disease_id": "DOID:0111910", "name": "spermatogenic failure", "description": "A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid 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ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "D3Z423", "url": "https://www.uniprot.org/uniprotkb/D3Z423" } ], "pmid": "" }, { "name": "homologous chromosome pairing at meiosis", "id": "GO:0007129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007129", "evidence": [ { "database": "UniProtKB", "id": "D3Z423", "url": "https://www.uniprot.org/uniprotkb/D3Z423" } ], "pmid": "" }, { "name": "chiasma assembly", "id": "GO:0051026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051026", "evidence": [ { "database": "UniProtKB", "id": "D3Z423", "url": "https://www.uniprot.org/uniprotkb/D3Z423" } ], "pmid": "" }, { "name": "reciprocal meiotic recombination", "id": "GO:0007131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007131", "evidence": [ { "database": "UniProtKB", "id": "D3Z423", "url": "https://www.uniprot.org/uniprotkb/D3Z423" } ], "pmid": "" } ], "cellular_component": [ { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "D3Z423", "url": "https://www.uniprot.org/uniprotkb/D3Z423" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D3Z423-1", "start_pos": "24", "end_pos": "24", "site_lbl": "His24", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Abolishes autoubiquitinylation. Spermatocytes recapitulated the phenotype observed in Rnf212b deficient mice, including modest synapsis defects, a reduction in the localization of pro-CO factors (MSH4, TEX11, SHOC1) and absence of late CO-intermediates.", "evidence": [ { "database": "UniProtKB", "id": "D3Z423", "url": "https://www.uniprot.org/uniprotkb/D3Z423" }, { "database": "PubMed", "id": "38865271", "url": "https://glygen.org/publication/PubMed/38865271" } ] } ] } ], "record_id": "batch.mouse.10" }, { "uniprot_canonical_ac": "Q925F3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 292, "chemical_mass": 32845.0, "gene_names": "Rnf144a;Kiaa0161;Rnf144a;Rnf144;UIP4;Ubce7ip4;Uip4", "protein_name": "E3 ubiquitin-protein ligase RNF144A", "disease": [], "biological_process": [ { "name": "pattern recognition receptor signaling pathway", "id": "GO:0002221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002221", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "protein K6-linked ubiquitination", "id": "GO:0085020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085020", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "cytoplasmic pattern recognition receptor signaling pathway", "id": "GO:0002753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002753", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "organelle membrane", "id": "GO:0031090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme binding", "id": "GO:0031624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031624", "evidence": [ { "database": "UniProtKB", "id": "Q925F3", "url": "https://www.uniprot.org/uniprotkb/Q925F3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.10" }, { "uniprot_canonical_ac": "P35290-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 203, "chemical_mass": 23144.0, "gene_names": "Rab24;6530406O07Rik;Rab24", "protein_name": "Ras-related protein Rab-24", "disease": [ { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "attachment of spindle microtubules to kinetochore", "id": "GO:0008608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008608", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "oocyte maturation", "id": "GO:0001556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001556", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" }, { "name": "meiotic nuclear division", "id": "GO:0140013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140013", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P35290-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Tyr172", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" }, { "database": "PubMed", "id": "14680817", "url": "https://glygen.org/publication/PubMed/14680817" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No change in autophagosome targeting under fed condition. Decreased autophagosome targeting under starved condition.", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" }, { "database": "PubMed", "id": "26325487", "url": "https://glygen.org/publication/PubMed/26325487" } ] } ] }, { "uniprot_canonical_ac": "P35290-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Tyr17", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35290", "url": "https://www.uniprot.org/uniprotkb/P35290" }, { "database": "PubMed", "id": "14680817", "url": "https://glygen.org/publication/PubMed/14680817" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No change in autophagosome targeting under fed condition. 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"start_pos": 135, "start_aa": "Asn", "end_pos": 135, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn135", "evidence": [ { "id": "Q14B24", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q14B24#ptm_processing" } ] } ] } ], "record_id": "batch.mouse.10" }, { "uniprot_canonical_ac": "Q08297-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q08297", "url": "https://www.uniprot.org/uniprotkb/Q08297" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 339, "chemical_mass": 36971.0, "gene_names": "Rad51;Rad51a;Rad51;Reca", "protein_name": "DNA repair protein RAD51 homolog 1", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": 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The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:874", 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"database": "UniProtKB", "id": "P70388", "url": "https://www.uniprot.org/uniprotkb/P70388" } ], "pmid": "" }, { "name": "mitotic G2/M transition checkpoint", "id": "GO:0044818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044818", "evidence": [ { "database": "UniProtKB", "id": "P70388", "url": "https://www.uniprot.org/uniprotkb/P70388" } ], "pmid": "" }, { "name": "telomere maintenance via telomerase", "id": "GO:0007004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007004", "evidence": [ { "database": "UniProtKB", "id": "P70388", "url": "https://www.uniprot.org/uniprotkb/P70388" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "P70388", "url": "https://www.uniprot.org/uniprotkb/P70388" } ], "pmid": "" }, { "name": "chromosome organization involved in meiotic cell cycle", "id": "GO:0070192", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046597", "evidence": [ { "database": "UniProtKB", "id": "P70388", "url": "https://www.uniprot.org/uniprotkb/P70388" } ], "pmid": "" }, { "name": "regulation of mitotic recombination", "id": "GO:0000019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000019", "evidence": [ { "database": "UniProtKB", "id": "P70388", "url": "https://www.uniprot.org/uniprotkb/P70388" } ], "pmid": "" }, { "name": "DNA strand resection involved in replication fork processing", "id": "GO:0110025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110025", "evidence": [ { "database": "UniProtKB", "id": "P70388", "url": "https://www.uniprot.org/uniprotkb/P70388" } ], "pmid": "" }, { "name": "homologous recombination", "id": "GO:0035825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035825", "evidence": [ { "database": "UniProtKB", "id": "P70388", "url": "https://www.uniprot.org/uniprotkb/P70388" } ], "pmid": "" }, { "name": "R-loop processing", "id": "GO:0062176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062176", "evidence": [ { "database": "UniProtKB", "id": "P70388", "url": "https://www.uniprot.org/uniprotkb/P70388" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "P70388", "url": "https://www.uniprot.org/uniprotkb/P70388" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "P70388", "url": "https://www.uniprot.org/uniprotkb/P70388" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70388-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Ser635", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P70388", "url": 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Homozygous individuals die with complete bone marrow depletion as a result of progressive hematopoietic stem cell failure.", "evidence": [ { "database": "UniProtKB", "id": "P70388", "url": "https://www.uniprot.org/uniprotkb/P70388" }, { "database": "PubMed", "id": "12208847", "url": "https://glygen.org/publication/PubMed/12208847" } ] } ] } ], "record_id": "batch.mouse.10" }, { "uniprot_canonical_ac": "Q05144-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q05144", "url": "https://www.uniprot.org/uniprotkb/Q05144" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 192, "chemical_mass": 21441.0, "gene_names": "Rac2;Rac2", "protein_name": "Ras-related C3 botulinum toxin substrate 2", "disease": [ { "disease_id": "DOID:0080235", "name": "autosomal dominant intellectual developmental disorder 48", "description": "An autosomal dominant intellectual developmental disorder 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"name": "histone H3K36 dimethyltransferase activity", "id": "GO:0140954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140954", "evidence": [ { "database": "UniProtKB", "id": "Q80UJ9", "url": "https://www.uniprot.org/uniprotkb/Q80UJ9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q80UJ9", "url": "https://www.uniprot.org/uniprotkb/Q80UJ9" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q80UJ9", "url": "https://www.uniprot.org/uniprotkb/Q80UJ9" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q80UJ9", "url": "https://www.uniprot.org/uniprotkb/Q80UJ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.10" }, { "uniprot_canonical_ac": "Q9CZC8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 414, "chemical_mass": 46326.0, "gene_names": "Scrn1;2810019K23Rik;6330535A03Rik;Kiaa0193;SES1;Scrn1;mKIAA0193", "protein_name": "Secernin-1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q9CZC8", "url": "https://www.uniprot.org/uniprotkb/Q9CZC8" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle cycle", "id": 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], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 406, "chemical_mass": 43013.0, "gene_names": "Slc22a18;Slc67a1;BWR1A;BWSCR1A;HET;ITM;Impt1;Itm;Orctl2;Slc22a18;Slc22a1l;Slc67a1;TSSC5;Tssc5;p45-BWR1A", "protein_name": "Solute carrier family 22 member 18", "disease": [ { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "Q68FF9", "url": "https://www.uniprot.org/uniprotkb/Q68FF9" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q68FF9", "url": "https://www.uniprot.org/uniprotkb/Q68FF9" } ], "pmid": "" }, { "name": "urogenital system development", "id": "GO:0001655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001655", "evidence": [ { "database": "UniProtKB", "id": "Q68FF9", "url": "https://www.uniprot.org/uniprotkb/Q68FF9" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "Q68FF9", "url": "https://www.uniprot.org/uniprotkb/Q68FF9" } ], "pmid": "" }, { "name": "pituitary gland development", "id": "GO:0021983", "url": 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No effect on normal location in lysosomes.", "evidence": [ { "database": "UniProtKB", "id": "O35114", "url": "https://www.uniprot.org/uniprotkb/O35114" }, { "database": "PubMed", "id": "24162852", "url": "https://glygen.org/publication/PubMed/24162852" } ] } ] }, { "uniprot_canonical_ac": "O35114-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Asn68", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 68, "start_aa": "Asn", "end_pos": 68, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn68", "evidence": [ { "id": "O35114", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35114#ptm_processing" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "Loss of glycosylation site. Causes retention in the endoplasmic reticulum and abolishes normal location in lysosomes.", "evidence": [ { "database": "UniProtKB", "id": "O35114", "url": "https://www.uniprot.org/uniprotkb/O35114" }, { "database": "PubMed", "id": "24162852", "url": "https://glygen.org/publication/PubMed/24162852" } ] } ] }, { "uniprot_canonical_ac": "O35114-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Thr208", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGT->NGM).", "chr_id": "5", "chr_pos": "92607982", "evidence": [ { "id": "rs3388753998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388753998" } ] } ] }, { "uniprot_canonical_ac": "O35114-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Leu155", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Abolishes interaction with GBA1. No effect on normal location in lysosomes.", "evidence": [ { "database": "UniProtKB", "id": "O35114", "url": "https://www.uniprot.org/uniprotkb/O35114" }, { "database": "PubMed", "id": "24162852", "url": "https://glygen.org/publication/PubMed/24162852" } ] } ] }, { "uniprot_canonical_ac": "O35114-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Ile156", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "D", "comment": "Abolishes interaction with GBA1. No effect on normal location in lysosomes.", "evidence": [ { "database": "UniProtKB", "id": "O35114", "url": "https://www.uniprot.org/uniprotkb/O35114" }, { "database": "PubMed", "id": "24162852", "url": "https://glygen.org/publication/PubMed/24162852" } ] } ] }, { "uniprot_canonical_ac": "O35114-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Met159", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "D", "comment": "Abolishes interaction with GBA1. No effect on normal location in lysosomes.", "evidence": [ { "database": "UniProtKB", "id": "O35114", "url": "https://www.uniprot.org/uniprotkb/O35114" }, { "database": "PubMed", "id": "24162852", "url": "https://glygen.org/publication/PubMed/24162852" } ] } ] }, { "uniprot_canonical_ac": "O35114-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Leu160", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Abolishes interaction with GBA1. No effect on normal location in lysosomes.", "evidence": [ { "database": "UniProtKB", "id": "O35114", "url": "https://www.uniprot.org/uniprotkb/O35114" }, { "database": "PubMed", "id": "24162852", "url": "https://glygen.org/publication/PubMed/24162852" } ] } ] }, { "uniprot_canonical_ac": "O35114-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Ala162", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Abolishes interaction with GBA1. No effect on normal location in lysosomes.", "evidence": [ { "database": "UniProtKB", "id": "O35114", "url": "https://www.uniprot.org/uniprotkb/O35114" }, { "database": "PubMed", "id": "24162852", "url": "https://glygen.org/publication/PubMed/24162852" } ] } ] }, { "uniprot_canonical_ac": "O35114-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Tyr163", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "D", "comment": "Abolishes interaction with GBA1. No effect on normal location in lysosomes.", "evidence": [ { "database": "UniProtKB", "id": "O35114", "url": "https://www.uniprot.org/uniprotkb/O35114" }, { "database": "PubMed", "id": "24162852", "url": "https://glygen.org/publication/PubMed/24162852" } ] } ] }, { "uniprot_canonical_ac": "O35114-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Lys166", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "D", "comment": "Abolishes interaction with GBA1. 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No effect on cell surface localization. No effect on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Leu213", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "No effect on protein abundance. No effect on cell surface localization. Decreases alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Asp21", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "No effect on protein abundance. Increases localization to the cell membrane. Increases alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Arg225", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "No effect on protein abundance. Strong decreases of cell surface localization. Decreases alanine uptake.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Gln25", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "D", "comment": "No effect on protein abundance. Almost complete loss of cell surface localization. Decreases alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] }, { "sequence_org": "Q", "sequence_mut": "V", "comment": "No effect on protein abundance. Strong decrease of cell surface localization. Decreases alanine uptake.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Asn283", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "No effect on protein abundance. Strong decreases of cell surface localization. Decreases alanine uptake.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Asp287", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "K", "comment": "No effect on protein abundance. Strong decreases of cell surface localization. Decreases alanine uptake.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "No effect on protein abundance. Strong decreases of cell surface localization. Decreases alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Ser296", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "No effect on protein abundance. Strong decreases of cell surface localization. Decreases alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Met297", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "C", "comment": "No effect on protein abundance. No effect on cell surface localization. No effect on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] }, { "sequence_org": "M", "sequence_mut": "S", "comment": "No effect on protein abundance. No effect on cell surface localization. No effect on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Ile456", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "No effect on protein abundance. No effect on cell surface localization. No effect on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Gly464", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "N", "comment": "No effect on protein abundance. No effect on cell surface localization. No effect on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Leu477", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "No effect on protein abundance. No effect on cell surface localization. No effect on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Gly495", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "No effect on protein abundance. Strong decreases of cell surface localization. Decreases alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Asp502", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Decreases protein abundance. Strong decreases of cell surface localization. Strong decreases on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "50", "end_pos": "50", "site_lbl": "His50", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "No effect on protein abundance. No effect on cell surface localization. Increases alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Gln568", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "No effect on protein abundance. No effect on cell surface localization. No effect on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Tyr72", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "No effect on protein abundance. No effect on cell surface localization. No effect on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Gly78", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "No effect on protein abundance. No effect on cell surface expression. Decreases alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] }, { "uniprot_canonical_ac": "O88576-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Lys90", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "No effect on protein abundance. No effect on cell surface localization. No effect on alanine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O88576", "url": "https://www.uniprot.org/uniprotkb/O88576" }, { "database": "PubMed", "id": "26240152", "url": "https://glygen.org/publication/PubMed/26240152" } ] } ] } ], "record_id": "batch.mouse.10" }, { "uniprot_canonical_ac": "P0C5K1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P0C5K1", "url": "https://www.uniprot.org/uniprotkb/P0C5K1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 362, "chemical_mass": 39699.0, "gene_names": "Sbk2;Gm1079;Sbk2;Sgk069", "protein_name": "Serine/threonine-protein kinase SBK2", "disease": [], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "P0C5K1", "url": 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0.0 }, { "disease_id": "DOID:9258", "name": "Waardenburg syndrome", "description": "A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.", "url": "https://disease-ontology.org/term/DOID:9258", "evidence": [ { "id": "9258", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9258" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "stem cell factor receptor binding", "id": "GO:0005173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005173", "evidence": [ { "database": "UniProtKB", "id": "P20826", "url": "https://www.uniprot.org/uniprotkb/P20826" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P20826", "url": "https://www.uniprot.org/uniprotkb/P20826" } ], "pmid": "" }, { "name": "growth factor 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"evidence": [ { "database": "UniProtKB", "id": "Q8R2K4", "url": "https://www.uniprot.org/uniprotkb/Q8R2K4" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8R2K4", "url": "https://www.uniprot.org/uniprotkb/Q8R2K4" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q8R2K4", "url": "https://www.uniprot.org/uniprotkb/Q8R2K4" } ], "pmid": "" }, { "name": "regulation of RNA splicing", "id": "GO:0043484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043484", "evidence": [ { "database": "UniProtKB", "id": "Q8R2K4", "url": "https://www.uniprot.org/uniprotkb/Q8R2K4" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": 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