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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:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1993", "evidence": [ { "id": "1993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ], "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:2870", "name": "endometrial adenocarcinoma", "description": "An endometrial carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2870", "evidence": [ { "id": "2870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ], "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: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" } ], 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"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:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:4948", "name": "gallbladder carcinoma", "description": "A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4948", "evidence": [ { "id": "4948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4948" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "weight": 0.0 }, 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"https://www.ebi.ac.uk/QuickGO/term/GO:0031683", "evidence": [ { "database": "UniProtKB", "id": "P50149", "url": "https://www.uniprot.org/uniprotkb/P50149" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P50149", "url": "https://www.uniprot.org/uniprotkb/P50149" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P50149", "url": "https://www.uniprot.org/uniprotkb/P50149" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P50149", "url": "https://www.uniprot.org/uniprotkb/P50149" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P50149", "url": "https://www.uniprot.org/uniprotkb/P50149" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "P50149", "url": "https://www.uniprot.org/uniprotkb/P50149" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "P50149", "url": "https://www.uniprot.org/uniprotkb/P50149" } ], "pmid": "" }, { "name": "heterotrimeric G-protein complex", "id": "GO:0005834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005834", "evidence": [ { "database": "UniProtKB", "id": "P50149", "url": "https://www.uniprot.org/uniprotkb/P50149" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P50149-1" }, { "uniprot_canonical_ac": "Q91WG8-1", "species": [ { "name": "Mus 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"site_lbl": "Leu315", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "5", "chr_pos": "138274549", "evidence": [ { "id": "rs3412159088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412159088" } ] } ] }, { "uniprot_canonical_ac": "Q8BKV1-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Ser356", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "5", "chr_pos": "138274294", "evidence": [ { "id": "rs3388796607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388796607" } ] } ] }, { "uniprot_canonical_ac": "Q8BKV1-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Arg358", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "5", "chr_pos": "138274289", "evidence": [ { "id": "rs3388801873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801873" } ] } ] }, { "uniprot_canonical_ac": "Q8BKV1-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Ala372", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "5", "chr_pos": "138274247", "evidence": [ { "id": "rs225977597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225977597" } ] } ] }, { "uniprot_canonical_ac": "Q8BKV1-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Trp392", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of 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"evidence": [ { "id": "rs3388792157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388792157" } ] } ] }, { "uniprot_canonical_ac": "Q8BKV1-1", "start_pos": "471", "end_pos": "471", "site_lbl": "His471", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "5", "chr_pos": "138273786", "evidence": [ { "id": "rs3388796598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388796598" } ] } ] }, { "uniprot_canonical_ac": "Q8BKV1-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Arg473", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "5", "chr_pos": "138273779", "evidence": [ { "id": "rs3388792158", "database": "dbSNP", "url": 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{ "uniprot_canonical_ac": "Q8BKV1-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Asp492", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "5", "chr_pos": "138273723", "evidence": [ { "id": "rs3388801876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801876" } ] } ] }, { "uniprot_canonical_ac": "Q8BKV1-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Glu72", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "5", "chr_pos": "138277210", "evidence": [ { "id": "rs213342908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213342908" } ] } ] }, { "uniprot_canonical_ac": "Q8BKV1-1", "start_pos": "79", "end_pos": "79", "site_lbl": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q99NB5", "url": "https://www.uniprot.org/uniprotkb/Q99NB5" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "Q99NB5", "url": "https://www.uniprot.org/uniprotkb/Q99NB5" } ], "pmid": "" }, { "name": "programmed cell death", "id": "GO:0012501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012501", "evidence": [ { "database": "UniProtKB", "id": "Q99NB5", "url": "https://www.uniprot.org/uniprotkb/Q99NB5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99NB5-1" }, { "uniprot_canonical_ac": "Q9Z2W8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z2W8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2W8" } ], "common_name": "Mouse", "glygen_name": 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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 } ], "molecular_function": [ { "name": "glutathione transferase activity", "id": "GO:0004364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004364", "evidence": [ { "database": "UniProtKB", "id": "Q8K2Q2", "url": "https://www.uniprot.org/uniprotkb/Q8K2Q2" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8K2Q2", "url": "https://www.uniprot.org/uniprotkb/Q8K2Q2" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q8K2Q2", "url": "https://www.uniprot.org/uniprotkb/Q8K2Q2" } ], "pmid": "" }, { "name": "glutathione dehydrogenase (ascorbate) activity", "id": "GO:0045174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045174", "evidence": [ { "database": "UniProtKB", "id": "Q8K2Q2", "url": "https://www.uniprot.org/uniprotkb/Q8K2Q2" } ], "pmid": "" }, { "name": "methylarsonate reductase activity", "id": "GO:0050610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050610", "evidence": [ { "database": "UniProtKB", "id": "Q8K2Q2", "url": "https://www.uniprot.org/uniprotkb/Q8K2Q2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K2Q2", "url": "https://www.uniprot.org/uniprotkb/Q8K2Q2" } ], "pmid": "" } ], "biological_process": [ { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "Q8K2Q2", "url": "https://www.uniprot.org/uniprotkb/Q8K2Q2" } ], "pmid": "" }, { "name": "L-ascorbic acid metabolic process", "id": "GO:0019852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019852", "evidence": [ { "database": "UniProtKB", "id": "Q8K2Q2", "url": "https://www.uniprot.org/uniprotkb/Q8K2Q2" } ], "pmid": "" }, { "name": "cellular response to arsenic-containing substance", "id": "GO:0071243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071243", "evidence": [ { "database": "UniProtKB", "id": "Q8K2Q2", "url": "https://www.uniprot.org/uniprotkb/Q8K2Q2" } ], "pmid": "" }, { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "Q8K2Q2", "url": "https://www.uniprot.org/uniprotkb/Q8K2Q2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8K2Q2-1" }, { "uniprot_canonical_ac": "Q8R088-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 285, "chemical_mass": 32906.0, "gene_names": "Golph3l;2010204I15Rik;Golph3l;Gpp34r", "protein_name": "Golgi phosphoprotein 3-like", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "pmid": "" }, { "name": "Golgi cisterna membrane", "id": "GO:0032580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032580", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "pmid": "" }, { "name": "Golgi cisterna", "id": "GO:0031985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031985", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "pmid": "" }, { "name": "Golgi to plasma membrane protein transport", "id": "GO:0043001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043001", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "pmid": "" }, { "name": "retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "id": "GO:0006890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006890", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "pmid": "" }, { "name": "Golgi vesicle budding", "id": "GO:0048194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048194", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "pmid": "" }, { "name": "protein targeting to Golgi apparatus", "id": "GO:0140450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140450", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol-4-phosphate binding", "id": "GO:0070273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070273", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "pmid": "" }, { "name": "cargo adaptor activity", "id": "GO:0140312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140312", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R088-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Ser112", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R088", "url": "https://www.uniprot.org/uniprotkb/Q8R088" } ] } ] } ], "record_id": "Q8R088-1" }, { "uniprot_canonical_ac": "Q8R1W2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R1W2", "url": "https://www.uniprot.org/uniprotkb/Q8R1W2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 324, "chemical_mass": 36108.0, "gene_names": "Gsg1;Gsg1", "protein_name": "Germ cell-specific gene 1 protein", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8R1W2", "url": "https://www.uniprot.org/uniprotkb/Q8R1W2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R1W2", "url": "https://www.uniprot.org/uniprotkb/Q8R1W2" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8R1W2", "url": "https://www.uniprot.org/uniprotkb/Q8R1W2" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase binding", "id": "GO:0070063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070063", "evidence": [ { "database": "UniProtKB", "id": "Q8R1W2", "url": "https://www.uniprot.org/uniprotkb/Q8R1W2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8R1W2-1" }, { "uniprot_canonical_ac": "Q8VHD6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 536, "chemical_mass": 56579.0, "gene_names": "Slc2a10;Glut10;Slc2a10", "protein_name": "Solute carrier family 2, facilitated glucose transporter member 10", "disease": [ { "disease_id": "DOID:0050645", "name": "arterial tortuosity syndrome", "description": "A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.", "url": "https://disease-ontology.org/term/DOID:0050645", "evidence": [ { "id": "0050645", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050645" } ], "weight": 0.0 } ], "biological_process": [ { "name": "dehydroascorbic acid transport", "id": "GO:0070837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070837", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "circulatory system development", "id": "GO:0072359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072359", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "D-glucose transmembrane transport", "id": "GO:1904659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904659", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "regulation of extracellular matrix organization", "id": "GO:1903053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903053", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030511", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "cell redox homeostasis", "id": "GO:0045454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045454", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "negative regulation of integrin-mediated signaling pathway", "id": "GO:2001045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001045", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "embryonic skeletal joint development", "id": "GO:0072498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072498", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "negative regulation of connective tissue growth factor production", "id": "GO:0032683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032683", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "negative regulation of proteoglycan biosynthetic process", "id": "GO:1902729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902729", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "positive regulation of proteoglycan biosynthetic process", "id": "GO:1902730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902730", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "D-glucose import across plasma membrane", "id": "GO:0098708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098708", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" } ], "molecular_function": [ { "name": "dehydroascorbic acid transmembrane transporter activity", "id": "GO:0033300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033300", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "D-glucose transmembrane transporter activity", "id": "GO:0055056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055056", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": "https://www.uniprot.org/uniprotkb/Q8VHD6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VHD6", "url": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388596412" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Leu10", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356369", "evidence": [ { "id": "rs3388615514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388615514" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Ala111", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356673", "evidence": [ { "id": "rs3410289555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410289555" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Met117", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356692", "evidence": [ { "id": "rs3388614619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614619" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Cys11", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356372", "evidence": [ { "id": "rs3388615512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388615512" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Arg130", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356729", "evidence": [ { "id": "rs5525839614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525839614" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Ile143", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356768", "evidence": [ { "id": "rs3388612503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388612503" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Ser160", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356819", "evidence": [ { "id": "rs1134630048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134630048" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Met167", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356842", "evidence": [ { "id": "rs3388605345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388605345" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Ala172", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356856", "evidence": [ { "id": "rs3388614143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614143" } ] }, { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356855", "evidence": [ { "id": "rs3388609527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388609527" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Pro174", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356862", "evidence": [ { "id": "rs3388603126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388603126" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Pro195", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356925", "evidence": [ { "id": "rs1135074548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135074548" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Glu205", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356955", "evidence": [ { "id": "rs3388614188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614188" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Phe218", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356995", "evidence": [ { "id": "rs3388610505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388610505" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Pro248", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165357084", "evidence": [ { "id": "rs3392455595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392455595" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Val274", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165357161", "evidence": [ { "id": "rs3388596394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388596394" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Ala282", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165357185", "evidence": [ { "id": "rs3388605371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388605371" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Thr288", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165357204", "evidence": [ { "id": "rs3388612472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388612472" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Ala294", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165357221", "evidence": [ { "id": "rs3388596419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388596419" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Arg296", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165357228", "evidence": [ { "id": "rs3388608912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388608912" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Val298", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165357233", "evidence": [ { "id": "rs3388609480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388609480" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Gly303", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165357249", "evidence": [ { "id": "rs3388615495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388615495" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Ala305", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165357254", "evidence": [ { "id": "rs5525829147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525829147" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Leu306", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165357257", "evidence": [ { "id": "rs232881508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232881508" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Ser333", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165357339", "evidence": [ { "id": "rs3388603929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388603929" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Val349", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165357386", "evidence": [ { "id": "rs223686788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223686788" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "350", "end_pos": "350", "site_lbl": "Arg350", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165357389", "evidence": [ { "id": "rs3388616378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388616378" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Leu366", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165357438", "evidence": [ { "id": "rs242278921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242278921" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Gly384", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165357492", "evidence": [ { "id": "rs1133805247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133805247" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Val410", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165357569", "evidence": [ { "id": "rs3388603163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388603163" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Ala437", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165358186", "evidence": [ { "id": "rs27329336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27329336" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Phe446", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165358212", "evidence": [ { "id": "rs3388603911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388603911" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Asn455", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165358239", "evidence": [ { "id": "rs3388612478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388612478" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Gly498", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165359630", "evidence": [ { "id": "rs3388614108", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614108" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "499", "end_pos": "499", "site_lbl": "Gln499", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165359633", "evidence": [ { "id": "rs3388612529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388612529" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "516", "end_pos": "516", "site_lbl": "Asn516", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165360098", "evidence": [ { "id": "rs27329316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27329316" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "519", "end_pos": "519", "site_lbl": "His519", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165360107", "evidence": [ { "id": "rs236681837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236681837" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Gly524", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165360121", "evidence": [ { "id": "rs27329315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27329315" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Ser534", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165360151", "evidence": [ { "id": "rs212850656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212850656" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ala58", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356514", "evidence": [ { "id": "rs3388608911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388608911" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Tyr72", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356556", "evidence": [ { "id": "rs3388615520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388615520" } ] } ] }, { "uniprot_canonical_ac": "Q8VHD6-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Ala83", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "2", "chr_pos": "165356589", "evidence": [ { "id": "rs260462829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260462829" } ] } ] } ], "record_id": "Q8VHD6-1" }, { "uniprot_canonical_ac": "Q99L27-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99L27", "url": "https://www.uniprot.org/uniprotkb/Q99L27" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 348, "chemical_mass": 38019.0, "gene_names": "Gmpr2;1810008P16Rik;5730544D12Rik;GMPR 2;Gmpr2", 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"common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 300, "chemical_mass": 32503.0, "gene_names": "Isg20;1600023I01Rik;2010107M23Rik;20kDa;DnaQL;HEM45;Isg20", "protein_name": "Interferon-stimulated gene 20 kDa protein", "disease": [], "molecular_function": [ { "name": "single-stranded DNA 3'-5' DNA exonuclease activity", "id": "GO:0008310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008310", "evidence": [ { "database": "UniProtKB", "id": "Q9JL16", "url": "https://www.uniprot.org/uniprotkb/Q9JL16" } ], "pmid": "" }, { "name": "exoribonuclease II activity", "id": "GO:0008859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008859", "evidence": [ { "database": "UniProtKB", "id": "Q9JL16", "url": "https://www.uniprot.org/uniprotkb/Q9JL16" } ], "pmid": "" }, { "name": "U2 snRNA binding", "id": "GO:0030620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030620", "evidence": [ { "database": "UniProtKB", "id": "Q9JL16", "url": 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"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": "129559007", "evidence": [ { "id": "rs3388850332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388850332" } ] } ] }, { "uniprot_canonical_ac": "Q8CJC7-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Phe91", "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": "129559056", "evidence": [ { "id": "rs30465180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30465180" } ] } ] } ], "record_id": "Q8CJC7-1" }, { "uniprot_canonical_ac": "O35652-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35652", "url": "https://www.uniprot.org/uniprotkb/O35652" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 367, "chemical_mass": 40710.0, "gene_names": "Lhx8;L3;Lhx7;Lhx8", "protein_name": "LIM/homeobox protein Lhx8", "disease": [ { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 } ], "biological_process": [ { "name": "forebrain neuron differentiation", "id": "GO:0021879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021879", "evidence": [ { "database": "UniProtKB", "id": "O35652", "url": "https://www.uniprot.org/uniprotkb/O35652" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "O35652", "url": "https://www.uniprot.org/uniprotkb/O35652" } ], "pmid": "" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "O35652", "url": "https://www.uniprot.org/uniprotkb/O35652" } ], "pmid": "" }, { "name": "forebrain neuron development", "id": "GO:0021884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021884", "evidence": [ { "database": "UniProtKB", "id": "O35652", "url": "https://www.uniprot.org/uniprotkb/O35652" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "O35652", "url": "https://www.uniprot.org/uniprotkb/O35652" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O35652", "url": "https://www.uniprot.org/uniprotkb/O35652" } ], "pmid": "" }, { "name": "female germ cell nucleus", "id": "GO:0001674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001674", "evidence": [ { "database": "UniProtKB", "id": "O35652", "url": "https://www.uniprot.org/uniprotkb/O35652" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O35652", "url": "https://www.uniprot.org/uniprotkb/O35652" } ], "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": "O35652", "url": "https://www.uniprot.org/uniprotkb/O35652" } ], "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": "O35652", "url": "https://www.uniprot.org/uniprotkb/O35652" } ], "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": "O35652", "url": "https://www.uniprot.org/uniprotkb/O35652" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O35652", "url": "https://www.uniprot.org/uniprotkb/O35652" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O35652-1" }, { "uniprot_canonical_ac": "P97873-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97873", "url": "https://www.uniprot.org/uniprotkb/P97873" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 607, "chemical_mass": 66506.0, "gene_names": "Loxl1;Lox2;Loxl1;Loxl", "protein_name": "Lysyl oxidase homolog 1", "disease": [ { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "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": "P97873", "url": "https://www.uniprot.org/uniprotkb/P97873" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P97873", "url": "https://www.uniprot.org/uniprotkb/P97873" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "P97873", "url": 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"" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP3", "url": "https://www.uniprot.org/uniprotkb/Q8JZP3" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP3", "url": "https://www.uniprot.org/uniprotkb/Q8JZP3" } ], "pmid": "" }, { "name": "ubiquitin-like ligase-substrate adaptor activity", "id": "GO:1990756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990756", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP3", "url": "https://www.uniprot.org/uniprotkb/Q8JZP3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8JZP3", "url": "https://www.uniprot.org/uniprotkb/Q8JZP3" } ], 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"https://www.uniprot.org/uniprotkb/Q60651#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Asp124", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DKT->NKT); glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130039021", "evidence": [ { "id": "rs3544862802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544862802" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Ser162", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SRC->NRC); glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036553", "evidence": [ { "id": "rs3544936758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544936758" } ] }, { "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": "130036553", "evidence": [ { "id": "rs3544936758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544936758" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Lys165", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (KQS->NQS); glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036543", "evidence": [ { "id": "rs3397415102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397415102" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Ser172", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NSS->NSG); glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036524", "evidence": [ { "id": "rs3397125660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397125660" } ] }, { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NSS->NSR); glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036522", "evidence": [ { "id": "rs3397381880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397381880" } ] }, { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130036524", "evidence": [ { "id": "rs3397125660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397125660" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Thr224", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NTT->NTM); glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130021123", "evidence": [ { "id": "rs3544916294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544916294" } ] }, { "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": "130021124", "evidence": [ { "id": "rs3544833977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544833977" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Thr7", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (TFS->NFS); glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042246", "evidence": [ { "id": "rs3544871797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544871797" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Leu101", "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": "130039089", "evidence": [ { "id": "rs3397216105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397216105" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Leu102", "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": "130039086", "evidence": [ { "id": "rs3544830078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544830078" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Ile107", "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": "130039072", "evidence": [ { "id": "rs3545039975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545039975" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Cys109", "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": "130039065", "evidence": [ { "id": "rs3544871798", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544871798" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Asn110", "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": "130039063", "evidence": [ { "id": "rs3544913385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544913385" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Leu111", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130039060", "evidence": [ { "id": "rs3545154885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545154885" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Ser114", "weight": 0.0, "snv": [ { "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": "130039051", "evidence": [ { "id": "rs3396963224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396963224" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Leu115", "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": "130039048", "evidence": [ { "id": "rs3397357678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397357678" } ] }, { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130039048", "evidence": [ { "id": "rs3397357678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397357678" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Val11", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130042234", "evidence": [ { "id": "rs3544913046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544913046" } ] }, { "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": "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, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130039030", "evidence": [ { "id": "rs3544830474", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544830474" } ] }, { "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": "130039029", "evidence": [ { "id": "rs3544933710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544933710" } ] } ] }, { "uniprot_canonical_ac": "Q60651-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Cys123", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130039024", "evidence": [ { "id": "rs3397365351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397365351" } ] }, { "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", 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"Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130102115", "evidence": [ { "id": "rs3544873146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544873146" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Asp108", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130102112", "evidence": [ { "id": "rs3545044287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545044287" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Cys109", "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": "130102109", "evidence": [ { "id": "rs3545044307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545044307" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Arg110", "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": "130102105", "evidence": [ { "id": "rs3544873510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544873510" } ] }, { "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": "130102104", "evidence": [ { "id": "rs3544990482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544990482" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Ser112", "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": "130102100", "evidence": [ { "id": "rs3544916922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544916922" } ] }, { "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": "130102099", "evidence": [ { "id": "rs3544960906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544960906" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Tyr113", "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": "130102097", "evidence": [ { "id": "rs3544960761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544960761" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Leu115", "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": "130102090", "evidence": [ { "id": "rs3544876397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544876397" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Glu124", "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": "130102062", "evidence": [ { "id": "rs3397421314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397421314" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Arg125", "weight": 0.0, "snv": [ { "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": "130102060", "evidence": [ { "id": "rs3544944314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544944314" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Asp127", "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": "130102055", "evidence": [ { "id": "rs3545044118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545044118" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Thr130", "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": "130102045", "evidence": [ { "id": "rs3544961379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544961379" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Ser132", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130102038", "evidence": [ { "id": "rs3544842136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544842136" } ] }, { "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": "130102039", "evidence": [ { "id": "rs3397354607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397354607" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Ser134", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130102033", "evidence": [ { "id": "rs3397125663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397125663" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Asp135", "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": "130102031", "evidence": [ { "id": "rs3397519179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397519179" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Ser137", "weight": 0.0, "snv": [ { "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": "130102025", "evidence": [ { "id": "rs3544842178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544842178" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Arg138", "weight": 0.0, "snv": [ { "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": "130102021", "evidence": [ { "id": "rs3544944988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544944988" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Asp139", "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": "130102019", "evidence": [ { "id": "rs3544913093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544913093" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Gly141", "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": "130099140", "evidence": [ { "id": "rs3544842171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544842171" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Trp147", "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": "130099121", "evidence": [ { "id": "rs3544916303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544916303" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Gly151", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130099111", "evidence": [ { "id": "rs3396963751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396963751" } ] } ], "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "35% 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": "160", "end_pos": "160", "site_lbl": "Asn160", "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": "130099082", "evidence": [ { "id": "rs3397381882", "database": "dbSNP", "url": "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" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Gln29", "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": "130105038", "evidence": [ { "id": "rs3544944483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544944483" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Ser31", "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": "130105033", "evidence": [ { "id": "rs3544842347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544842347" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Lys33", "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": "130105026", "evidence": [ { "id": "rs3388867902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388867902" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Gly35", "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": "130105020", "evidence": [ { "id": "rs3545162853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545162853" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Gln44", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130103257", "evidence": [ { "id": "rs3544913334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544913334" } ] }, { "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": "130103257", "evidence": [ { "id": "rs3544913334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544913334" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Cys54", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130103228", "evidence": [ { "id": "rs3388862710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862710" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Leu56", "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": "130103221", "evidence": [ { "id": "rs3388858181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388858181" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Arg57", "weight": 0.0, "snv": [ { "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": "130103219", "evidence": [ { "id": "rs3544823082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544823082" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Val63", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130103200", "evidence": [ { "id": "rs3544836321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544836321" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Phe64", "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": "130103198", "evidence": [ { "id": "rs3544823479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544823479" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Val65", "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": "130103195", "evidence": [ { "id": "rs3544861581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544861581" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Lys67", "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": "130103187", "evidence": [ { "id": "rs3544961153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544961153" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Phe68", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130103186", "evidence": [ { "id": "rs3396574330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396574330" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Asn90", "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": "130102164", "evidence": [ { "id": "rs3544873134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544873134" } ] } ] }, { "uniprot_canonical_ac": "Q60682-1", "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": "130102155", "evidence": [ { "id": "rs3544938180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544938180" } ] } ] }, 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"dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397357149" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Tyr118", "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": "130310166", "evidence": [ { "id": "rs3388862772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862772" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Arg125", "weight": 0.0, "snv": [ { "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": "130310145", "evidence": [ { "id": "rs3544947315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544947315" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Lys129", "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": "130310134", "evidence": [ { "id": "rs3397384481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397384481" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Thr130", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130310130", "evidence": [ { "id": "rs3544885019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544885019" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Val133", "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": "130310122", "evidence": [ { "id": "rs3544837702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544837702" } ] }, { "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": "130310122", "evidence": [ { "id": "rs3544837702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544837702" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Ser137", "weight": 0.0, "snv": [ { "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": "130310110", "evidence": [ { "id": "rs3544996059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544996059" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Arg138", "weight": 0.0, "snv": [ { "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": "130310106", "evidence": [ { "id": "rs3544885056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544885056" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Asp139", "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": "130310104", "evidence": [ { "id": "rs3544845778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544845778" } ] }, { "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": "130310104", "evidence": [ { "id": "rs3544845778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544845778" } ] }, { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "130310104", "evidence": [ { "id": "rs3544845778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544845778" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Leu13", "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": "130312726", "evidence": [ { "id": "rs3544883344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544883344" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Ser151", "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": "130307195", "evidence": [ { "id": "rs3397217658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397217658" } ] } ] }, { "uniprot_canonical_ac": "Q64329-1", "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": "130307136", "evidence": [ { "id": "rs3544954663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544954663" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "No effect on MHC class I peptide tetramer binding; when associated with Q-169.", "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": "174", "end_pos": "174", "site_lbl": "Tyr174", "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": "130307125", "evidence": [ { "id": "rs3544880895", "database": "dbSNP", "url": "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": 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"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": 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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", "comment": "Increases stability and improves binding to MHCI class ligand; when associated with G-121; G-175 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": "225", "end_pos": "225", "site_lbl": "Lys225", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Greatly reduces MHC class I peptide tetramer binding; when associated with T-226.", "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": "227", "end_pos": "227", "site_lbl": "Arg227", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527038391" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Val108", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36985276", "evidence": [ { "id": "rs3395449455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395449455" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Gly110", "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": "36985271", "evidence": [ { "id": "rs3395375810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395375810" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Phe140", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36983528", "evidence": [ { "id": "rs3388747319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388747319" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Thr159", "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": "36983472", "evidence": [ { "id": "rs3388730468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388730468" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Ala164", "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": "36983458", "evidence": [ { "id": "rs230869085", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230869085" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Leu16", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36987874", "evidence": [ { "id": "rs32678862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32678862" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Arg175", "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": "36983424", "evidence": [ { "id": "rs3388753931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388753931" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Asp179", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36983412", "evidence": [ { "id": "rs3388740047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388740047" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Asp182", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36983404", "evidence": [ { "id": "rs32678118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32678118" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Met189", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36981549", "evidence": [ { "id": "rs266224357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs266224357" } ] }, { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36981550", "evidence": [ { "id": "rs224563379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224563379" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "195", "end_pos": "195", "site_lbl": "His195", "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": "36981531", "evidence": [ { "id": "rs247771971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247771971" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Ser197", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36981526", "evidence": [ { "id": "rs3388740020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388740020" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Phe230", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36979351", "evidence": [ { "id": "rs3388740063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388740063" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Gly245", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36979306", "evidence": [ { "id": "rs250798654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250798654" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Gly256", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36979272", "evidence": [ { "id": "rs32681157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32681157" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Asp303", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36978376", "evidence": [ { "id": "rs3411059815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411059815" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Ser319", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36978328", "evidence": [ { "id": "rs13467675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13467675" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Val31", "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": "345", "end_pos": "345", "site_lbl": "Gln345", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36978249", "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, 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"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": "rs5527023586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527023586" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "699", "end_pos": "699", "site_lbl": "Pro699", "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": "36971270", "evidence": [ { "id": "rs3388760142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388760142" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "741", "end_pos": "741", "site_lbl": "Ser741", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36971143", "evidence": [ { "id": "rs3507777555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507777555" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Ala755", "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": "36971101", "evidence": [ { "id": "rs3388757487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388757487" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "808", "end_pos": "808", "site_lbl": "Trp808", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36970481", "evidence": [ { "id": "rs3395279004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395279004" } ] }, { "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36970482", "evidence": [ { "id": "rs3395073129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395073129" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "809", "end_pos": "809", "site_lbl": "Asn809", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36970480", "evidence": [ { "id": "rs3395394323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395394323" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "810", "end_pos": "810", "site_lbl": "Asn810", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36970476", "evidence": [ { "id": "rs3395342401", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "O54782-1", "start_pos": "859", "end_pos": "859", "site_lbl": "Leu859", "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": "868", "end_pos": "868", "site_lbl": "Thr868", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36970302", "evidence": [ { "id": "rs260039114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260039114" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "889", "end_pos": "889", "site_lbl": "Ile889", 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filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36987898", "evidence": [ { "id": "rs32678860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32678860" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "904", "end_pos": "904", "site_lbl": "His904", "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": "36967656", "evidence": [ { "id": "rs3412920689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412920689" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "924", "end_pos": "924", "site_lbl": "Leu924", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36966421", "evidence": [ { "id": "rs3388755176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388755176" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "936", "end_pos": "936", "site_lbl": "Asp936", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36966384", "evidence": [ { "id": "rs3388757488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388757488" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "941", "end_pos": "941", "site_lbl": "Arg941", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36966370", "evidence": [ { "id": "rs263026032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263026032" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "950", "end_pos": "950", "site_lbl": "Val950", "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": "36965243", "evidence": [ { "id": "rs252824182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252824182" } ] }, { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "36965244", "evidence": [ { "id": "rs223053596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223053596" } ] } ] }, { "uniprot_canonical_ac": "O54782-1", "start_pos": "960", "end_pos": "960", "site_lbl": "Val960", "weight": 0.0, "snv": [ { "sequence_org": "V", 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"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": 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], "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 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"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": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell apoptotic process", "id": "GO:2001055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001055", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "mesenchymal cell proliferation", "id": "GO:0010463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010463", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "embryonic nail plate morphogenesis", "id": "GO:0035880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035880", "evidence": [ { "database": "UniProtKB", "id": "P13297", "url": "https://www.uniprot.org/uniprotkb/P13297" } ], "pmid": "" }, { "name": "negative regulation of odontoblast differentiation", "id": "GO:1901330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901330", "evidence": [ { "database": 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] } ] }, { "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": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388665646" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Gly15", "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": "135191484", "evidence": [ { "id": "rs250588106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250588106" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Ser160", "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": "135217663", "evidence": [ { "id": "rs265279058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265279058" } ] } ] }, { "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": "Tyr210", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135223742", "evidence": [ { "id": "rs3388666534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388666534" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Ala227", "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": "135228758", "evidence": [ { "id": "rs266150846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs266150846" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Ala230", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135228768", "evidence": [ { "id": "rs225848425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225848425" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Ala242", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135228804", "evidence": [ { "id": "rs245421280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245421280" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Gln257", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135228848", "evidence": [ { "id": "rs226818263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226818263" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Asn264", "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": "135228869", "evidence": [ { "id": "rs257309336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257309336" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Gln269", "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": "135228884", "evidence": [ { "id": "rs3388663850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388663850" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Glu271", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135228891", "evidence": [ { "id": "rs227876970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227876970" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Ile305", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135230342", "evidence": [ { "id": "rs3388669959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388669959" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Asp310", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135230356", "evidence": [ { "id": "rs231890891", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231890891" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Ile345", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "135248146", "evidence": [ { "id": "rs3388669386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388669386" } ] } ] }, { "uniprot_canonical_ac": "Q8K2I4-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Leu348", "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", 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"https://www.uniprot.org/uniprotkb/P70699#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "926", "end_pos": "926", "site_lbl": "Asn926", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G66537LK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EVTVLGVATAPTQVLSNGIPVSNFTYSPDNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 926, "start_aa": "Asn", "end_pos": 926, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn926", "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": "G74724QE", "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": 926, "start_aa": "Asn", "end_pos": 926, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn926", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2490", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2490" } ] }, { "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": 926, "start_aa": "Asn", "end_pos": 926, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn926", "evidence": [ { "id": "P70699", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P70699#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "933", "end_pos": "933", "site_lbl": "Asn933", "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": 933, "start_aa": "Asn", "end_pos": 933, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn933", "evidence": [ { "id": "P70699", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P70699#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NKS->HKS); glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119175420", "evidence": [ { "id": "rs3389192543", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389192543" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Gln100", "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": "119161257", "evidence": [ { "id": "rs26999968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs26999968" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Gln115", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119161303", "evidence": [ { "id": "rs3389223487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223487" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Val12", "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": "119160993", "evidence": [ { "id": "rs3389227739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389227739" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Arg137", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119161368", "evidence": [ { "id": "rs3389223097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223097" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Asp176", "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": "119161485", "evidence": [ { "id": "rs3389220108", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389220108" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Ile183", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119163697", "evidence": [ { "id": "rs3389220126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389220126" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Ser251", "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": "119164860", "evidence": [ { "id": "rs3402623810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402623810" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Gly261", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119164890", "evidence": [ { "id": "rs864262279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864262279" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Asp282", "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": "119164954", "evidence": [ { "id": "rs3389227759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389227759" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Leu30", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119161047", "evidence": [ { "id": "rs3389196624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389196624" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Asp319", "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": "119165468", "evidence": [ { "id": "rs3402967396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402967396" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Ala327", "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": "119165490", "evidence": [ { "id": "rs3389158098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389158098" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Val339", "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": "119165526", "evidence": [ { "id": "rs3389158115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389158115" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Gln352", "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": "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" } ] } ] }, { 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"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", 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"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": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389227774" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "800", "end_pos": "800", "site_lbl": "Gln800", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119174554", "evidence": [ { "id": "rs216536450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216536450" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Gln81", "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": "119161200", "evidence": [ { "id": "rs233517468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233517468" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "849", "end_pos": "849", "site_lbl": "Thr849", "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": "119174946", "evidence": [ { "id": "rs3389223455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223455" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "855", "end_pos": "855", "site_lbl": "Asp855", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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"rs3389227778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389227778" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "921", "end_pos": "921", "site_lbl": "Gly921", "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": "119175384", "evidence": [ { "id": "rs3389223098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223098" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Cys92", "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": "119161233", "evidence": [ { "id": "rs3389192542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389192542" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "932", "end_pos": "932", "site_lbl": "Asp932", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119175418", "evidence": [ { "id": "rs3402988215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402988215" } ] } ] }, { "uniprot_canonical_ac": "P70699-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Ile98", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "119161251", "evidence": [ { "id": "rs3389223510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223510" } ] } ] } ], "record_id": 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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 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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 membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "leukocyte tethering or rolling", "id": "GO:0050901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050901", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0016339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016339", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "positive regulation of leukocyte migration", "id": "GO:0002687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002687", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "regulation of cellular extravasation", "id": "GO:0002691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002691", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "cellular response to interleukin-6", "id": "GO:0071354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071354", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" }, { "name": "positive regulation of platelet activation", "id": "GO:0010572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010572", "evidence": [ { "database": "UniProtKB", "id": "Q01102", "url": "https://www.uniprot.org/uniprotkb/Q01102" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", 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lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163955758", "evidence": [ { "id": "rs48714309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48714309" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Asp285", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DSS->NSS); glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163957725", "evidence": [ { "id": "rs5525190614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525190614" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Asp522", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DCS->NCS); glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163968965", "evidence": [ { "id": "rs3388512133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388512133" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Thr10", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163951296", "evidence": [ { "id": "rs261229994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261229994" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Asp119", "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": "163954056", "evidence": [ { "id": "rs3388512169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388512169" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Cys163", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163954772", "evidence": [ { "id": "rs3388510284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510284" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Met166", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163954780", "evidence": [ { "id": "rs3388511919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511919" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Gly191", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163954855", "evidence": [ { "id": "rs3388511534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511534" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Lys202", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163955747", "evidence": [ { "id": "rs3388511935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511935" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Val203", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163955749", "evidence": [ { "id": "rs47235551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47235551" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Asn204", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163955752", "evidence": [ { "id": "rs47607749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47607749" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "208", "end_pos": "208", "site_lbl": "His208", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163955764", "evidence": [ { "id": "rs46062719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46062719" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Met211", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163955773", "evidence": [ { "id": "rs5525188872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525188872" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Gly218", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163955795", "evidence": [ { "id": "rs3390902918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390902918" } ] }, { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163955794", "evidence": [ { "id": "rs3390915502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390915502" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Glu219", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163955797", "evidence": [ { "id": "rs3388512094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388512094" } ] }, { "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": "163955797", "evidence": [ { "id": "rs3388512094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388512094" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Phe220", "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": "163955800", "evidence": [ { "id": "rs3390911236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390911236" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Ser229", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163955828", "evidence": [ { "id": "rs262411551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262411551" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Gly240", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163955860", "evidence": [ { "id": "rs49118704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49118704" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Asp258", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163955915", "evidence": [ { "id": "rs3539888312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539888312" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Trp25", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163951340", "evidence": [ { "id": "rs3388507828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388507828" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Gln263", "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": "163957660", "evidence": [ { "id": "rs223728174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223728174" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Ser287", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163957733", "evidence": [ { "id": "rs245738395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245738395" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Cys306", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163957789_163957790in", "evidence": [ { "id": "rs3390940001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390940001" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163957789", "evidence": [ { "id": "rs3390902933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390902933" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Ile322", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163959709", "evidence": [ { "id": "rs3388513038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388513038" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Val338", "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": "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: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163961598", "evidence": [ { "id": "rs245971324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245971324" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Ala445", "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": "163964673", "evidence": [ { "id": "rs3388511930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511930" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Pro454", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "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": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50515594" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Glu506", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163964856", "evidence": [ { "id": "rs3390915506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390915506" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Pro511", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163968933", "evidence": [ { "id": "rs261656360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261656360" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Gln518", "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": "163968954", "evidence": [ { "id": "rs226018714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226018714" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "519", "end_pos": "519", "site_lbl": "Gly519", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163968956", "evidence": [ { "id": "rs3388506748", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388506748" } ] } ] }, { "uniprot_canonical_ac": "Q01102-1", "start_pos": "51", "end_pos": "51", "site_lbl": 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"end_pos": 504, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn504", "evidence": [ { "id": "Q00690", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q00690#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "528", "end_pos": "528", "site_lbl": "Asn528", "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": 528, "start_aa": "Asn", "end_pos": 528, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn528", "evidence": [ { "id": "Q00690", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q00690#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Ser147", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NAS->NAA); glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163877666", "evidence": [ { "id": "rs3390910928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390910928" } ] }, { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163877667", "evidence": [ { "id": "rs3412662237", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412662237" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Ser194", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NCS->NCF); glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163878264", "evidence": [ { "id": "rs243195979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243195979" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Lys380", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NMK->NMT); glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163880579", "evidence": [ { "id": "rs3390921256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390921256" } ] }, { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163880578", "evidence": [ { "id": "rs3390915007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390915007" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ser384", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SAS->NAS); glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163880591", "evidence": [ { "id": "rs32660779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32660779" } ] }, { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163880590", "evidence": [ { "id": "rs3390902217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390902217" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Thr119", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163877101", "evidence": [ { "id": "rs3388510346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510346" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ser149", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163877673", "evidence": [ { "id": "rs3390842832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390842832" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Ala177", "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": "163878213", "evidence": [ { "id": "rs3388510647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510647" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Glu184", "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": "163878233", "evidence": [ { "id": "rs3388507815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388507815" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Pro199", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163878279", "evidence": [ { "id": "rs50207072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50207072" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Gly209", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163878309", "evidence": [ { "id": "rs260514720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260514720" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Cys225", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163878357", "evidence": [ { "id": "rs3388510579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510579" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Glu244", "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": "163879117", "evidence": [ { "id": "rs48706081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48706081" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Thr267", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163879187", "evidence": [ { "id": "rs3388510267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510267" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Thr270", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163879196", "evidence": [ { "id": "rs233976452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233976452" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Val274", "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": "163879208", "evidence": [ { "id": "rs257331788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257331788" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Thr322", "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": "163879454", "evidence": [ { "id": "rs5525180516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525180516" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Cys336", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163879496", "evidence": [ { "id": "rs3388511546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511546" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Pro345", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163879522", "evidence": [ { "id": "rs49738247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49738247" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Val348", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163879532", "evidence": [ { "id": "rs3388506765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388506765" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Gln359", "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": "163879565", "evidence": [ { "id": "rs584787052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584787052" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Leu371", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163880551", "evidence": [ { "id": "rs3388510954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510954" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Met379", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163880577", "evidence": [ { "id": "rs3390840466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390840466" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Ser386", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163880596", "evidence": [ { "id": "rs3390924364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390924364" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Ser394", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163880622", "evidence": [ { "id": "rs46769981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46769981" } ] } ] }, { "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": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163881216", "evidence": [ { "id": "rs3390868101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390868101" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Thr520", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163881473", "evidence": [ { "id": "rs50609932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50609932" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Thr538", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", 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"dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240374970" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "549", "end_pos": "549", "site_lbl": "Glu549", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163881562", "evidence": [ { "id": "rs3388511024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511024" } ] } ] }, { "uniprot_canonical_ac": "Q00690-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Val552", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/selectin.", "chr_id": "1", "chr_pos": "163882191", "evidence": [ { "id": "rs3539892986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539892986" } 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"evidence": [ { "id": "rs264332252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264332252" } ] } ] } ], "record_id": "Q00690-1" }, { "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": 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"evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "microtubule bundle", "id": "GO:0097427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097427", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of axonogenesis", "id": "GO:0050770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050770", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "regulation of cytoskeleton organization", "id": "GO:0051493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051493", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "axon development", "id": "GO:0061564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061564", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "establishment or maintenance of epithelial cell apical/basal polarity", "id": "GO:0045197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045197", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity regulating cell shape", "id": "GO:0071963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071963", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "regulation of postsynapse organization", "id": "GO:0099175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099175", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "regulation of neurofibrillary tangle assembly", "id": "GO:1902996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902996", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q05512", "url": "https://www.uniprot.org/uniprotkb/Q05512" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030983", "evidence": [ { "database": "UniProtKB", "id": "Q9QUM7", "url": "https://www.uniprot.org/uniprotkb/Q9QUM7" } ], "pmid": "" }, { "name": "ATP-dependent DNA damage sensor activity", "id": "GO:0140664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140664", "evidence": [ { "database": "UniProtKB", "id": "Q9QUM7", "url": "https://www.uniprot.org/uniprotkb/Q9QUM7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9QUM7", "url": "https://www.uniprot.org/uniprotkb/Q9QUM7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9QUM7", "url": "https://www.uniprot.org/uniprotkb/Q9QUM7" } ], "pmid": "" }, { "name": "DNA repair complex", "id": "GO:1990391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990391", "evidence": [ { "database": "UniProtKB", "id": "Q9QUM7", "url": "https://www.uniprot.org/uniprotkb/Q9QUM7" } ], "pmid": "" }, { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "Q9QUM7", "url": "https://www.uniprot.org/uniprotkb/Q9QUM7" } ], "pmid": "" } ], "biological_process": [ { "name": "mismatch repair", "id": "GO:0006298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006298", "evidence": [ { "database": "UniProtKB", "id": "Q9QUM7", "url": "https://www.uniprot.org/uniprotkb/Q9QUM7" } ], "pmid": "" }, { "name": "homologous chromosome pairing at meiosis", "id": "GO:0007129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007129", "evidence": [ { "database": "UniProtKB", "id": "Q9QUM7", "url": "https://www.uniprot.org/uniprotkb/Q9QUM7" } ], "pmid": "" }, { "name": "female gamete generation", "id": "GO:0007292", "url": 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"site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 6, "start_aa": "Thr", "end_pos": 6, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr6", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9QUM7-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Asp486", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Mice carrying this mutation show atrophic ovaries without oocytes, but no other visible phenotype.", "evidence": [ { "database": "UniProtKB", "id": "Q9QUM7", "url": "https://www.uniprot.org/uniprotkb/Q9QUM7" }, { "database": "PubMed", "id": "28175301", "url": "https://glygen.org/publication/PubMed/28175301" } ] } ] } ], "record_id": "Q9QUM7-1" }, { "uniprot_canonical_ac": "Q91ZB5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91ZB5", "url": "https://www.uniprot.org/uniprotkb/Q91ZB5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 289, "chemical_mass": 32028.0, "gene_names": "Mrgprg;Ebrt2;Gm1098;Mrgg;Mrgprg", "protein_name": "Mas-related G protein-coupled receptor member G", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q91ZB5", "url": "https://www.uniprot.org/uniprotkb/Q91ZB5" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91ZB5", "url": "https://www.uniprot.org/uniprotkb/Q91ZB5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q91ZB5", "url": "https://www.uniprot.org/uniprotkb/Q91ZB5" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q91ZB5", "url": "https://www.uniprot.org/uniprotkb/Q91ZB5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q91ZB5-1" }, { "uniprot_canonical_ac": "Q8R2R6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R2R6", "url": "https://www.uniprot.org/uniprotkb/Q8R2R6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 326, "chemical_mass": 36679.0, "gene_names": "Mtg1;Gm169;Gtpbp7;Mtg1", "protein_name": "Mitochondrial ribosome-associated GTPase 1", "disease": [], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q8R2R6", "url": "https://www.uniprot.org/uniprotkb/Q8R2R6" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q8R2R6", "url": "https://www.uniprot.org/uniprotkb/Q8R2R6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8R2R6", "url": "https://www.uniprot.org/uniprotkb/Q8R2R6" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8R2R6", "url": "https://www.uniprot.org/uniprotkb/Q8R2R6" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8R2R6", "url": "https://www.uniprot.org/uniprotkb/Q8R2R6" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q8R2R6", "url": "https://www.uniprot.org/uniprotkb/Q8R2R6" } ], "pmid": "" }, { "name": "mitochondrial ribosome", "id": "GO:0005761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005761", "evidence": [ { "database": "UniProtKB", "id": "Q8R2R6", "url": "https://www.uniprot.org/uniprotkb/Q8R2R6" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of mitochondrial translation", "id": "GO:0070129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070129", "evidence": [ { "database": "UniProtKB", "id": "Q8R2R6", "url": "https://www.uniprot.org/uniprotkb/Q8R2R6" } ], "pmid": "" }, { "name": "regulation of respiratory system process", "id": "GO:0044065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044065", "evidence": [ { "database": "UniProtKB", "id": "Q8R2R6", "url": "https://www.uniprot.org/uniprotkb/Q8R2R6" } ], "pmid": "" }, { "name": "mitochondrial large ribosomal subunit assembly", "id": "GO:1902775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902775", "evidence": [ { "database": "UniProtKB", "id": "Q8R2R6", "url": "https://www.uniprot.org/uniprotkb/Q8R2R6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8R2R6-1" }, { "uniprot_canonical_ac": "Q9R1S7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R1S7", "url": "https://www.uniprot.org/uniprotkb/Q9R1S7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1498, "chemical_mass": 164857.0, "gene_names": "Abcc6;Abcc1b;Abcc6;DCC;Dyscalc1;Mrp6;dyscalc", "protein_name": "ATP-binding cassette sub-family C 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "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 } ], "biological_process": [ { "name": "response to sodium phosphate", "id": "GO:1904383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904383", "evidence": [ { "database": "UniProtKB", "id": "Q9R1S7", "url": "https://www.uniprot.org/uniprotkb/Q9R1S7" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": 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"https://www.uniprot.org/uniprotkb/Q9R1S7" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q9R1S7", "url": "https://www.uniprot.org/uniprotkb/Q9R1S7" } ], "pmid": "" }, { "name": "ATP transport", "id": "GO:0015867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015867", "evidence": [ { "database": "UniProtKB", "id": "Q9R1S7", "url": "https://www.uniprot.org/uniprotkb/Q9R1S7" } ], "pmid": "" }, { "name": "response to magnesium ion", "id": "GO:0032026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032026", "evidence": [ { "database": "UniProtKB", "id": "Q9R1S7", "url": "https://www.uniprot.org/uniprotkb/Q9R1S7" } ], "pmid": "" }, { "name": "inorganic diphosphate transport", "id": "GO:0030505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030505", "evidence": [ { "database": "UniProtKB", "id": "Q9R1S7", "url": "https://www.uniprot.org/uniprotkb/Q9R1S7" } ], 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"https://www.uniprot.org/uniprotkb/Q9R1S7" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q9R1S7", "url": "https://www.uniprot.org/uniprotkb/Q9R1S7" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q9R1S7", "url": "https://www.uniprot.org/uniprotkb/Q9R1S7" } ], "pmid": "" }, { "name": "ABC-type xenobiotic transporter activity", "id": "GO:0008559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008559", "evidence": [ { "database": "UniProtKB", "id": "Q9R1S7", "url": "https://www.uniprot.org/uniprotkb/Q9R1S7" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9R1S7", "url": "https://www.uniprot.org/uniprotkb/Q9R1S7" } ], "pmid": "" }, { "name": "ABC-type glutathione S-conjugate transporter activity", "id": "GO:0015431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015431", "evidence": [ { "database": "UniProtKB", "id": "Q9R1S7", "url": "https://www.uniprot.org/uniprotkb/Q9R1S7" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q9R1S7", "url": "https://www.uniprot.org/uniprotkb/Q9R1S7" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9R1S7", "url": "https://www.uniprot.org/uniprotkb/Q9R1S7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", 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"url": "https://www.uniprot.org/uniprotkb/Q03358" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q03358", "url": "https://www.uniprot.org/uniprotkb/Q03358" } ], "pmid": "" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071392", "evidence": [ { "database": "UniProtKB", "id": "Q03358", "url": "https://www.uniprot.org/uniprotkb/Q03358" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q03358", "url": "https://www.uniprot.org/uniprotkb/Q03358" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q03358", "url": "https://www.uniprot.org/uniprotkb/Q03358" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q03358", "url": "https://www.uniprot.org/uniprotkb/Q03358" } ], "pmid": "" }, { "name": "endochondral bone growth", "id": "GO:0003416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003416", "evidence": [ { "database": "UniProtKB", "id": "Q03358", "url": "https://www.uniprot.org/uniprotkb/Q03358" } ], "pmid": "" }, { "name": "bone trabecula formation", "id": "GO:0060346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060346", "evidence": [ { "database": "UniProtKB", "id": "Q03358", "url": "https://www.uniprot.org/uniprotkb/Q03358" } ], "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": "Q03358", "url": "https://www.uniprot.org/uniprotkb/Q03358" } ], "pmid": "" }, { "name": "chondrocyte development", "id": "GO:0002063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002063", "evidence": [ { "database": "UniProtKB", "id": "Q03358", "url": "https://www.uniprot.org/uniprotkb/Q03358" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "Q03358", "url": "https://www.uniprot.org/uniprotkb/Q03358" } ], "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": "Q03358", "url": "https://www.uniprot.org/uniprotkb/Q03358" } ], "pmid": "" }, { "name": "branching involved in mammary gland duct morphogenesis", "id": "GO:0060444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060444", "evidence": 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"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": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388529432" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Gln24", "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": "14242947", "evidence": [ { "id": "rs237951796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237951796" } ] } ] }, { "uniprot_canonical_ac": "Q61830-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Gln250", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "14253729", "evidence": [ { "id": "rs3388531271", "database": "dbSNP", "url": "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", 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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, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105219582", "evidence": [ { "id": "rs3389179282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389179282" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Val366", "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": "11", "chr_pos": "105220177", "evidence": [ { "id": "rs218687565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218687565" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Pro368", "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": "105220182", "evidence": [ { "id": "rs3389209782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389209782" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Ala397", "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": "11", "chr_pos": "105222785", "evidence": [ { "id": "rs3389206397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389206397" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Cys409", "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": "105222821", "evidence": [ { "id": "rs3389179261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389179261" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Phe473", "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": "11", "chr_pos": "105223177", "evidence": [ { "id": "rs3412161910", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412161910" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Arg62", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105216397", "evidence": [ { "id": "rs221031854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221031854" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "630", "end_pos": "630", "site_lbl": "Glu630", "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": "11", "chr_pos": "105228512", "evidence": [ { "id": "rs3389220293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389220293" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Pro65", "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": "105216406", "evidence": [ { "id": "rs27040286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27040286" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "668", "end_pos": "668", "site_lbl": "Cys668", "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": "105228625", "evidence": [ { "id": "rs3389183583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389183583" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "677", "end_pos": "677", "site_lbl": "Lys677", "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": "11", "chr_pos": "105228653", "evidence": [ { "id": "rs3549010228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549010228" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "687", "end_pos": "687", "site_lbl": "Ser687", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105229627_105229628insGAACACCTGCAG", "evidence": [ { "id": "rs3402741100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402741100" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "688", "end_pos": "688", "site_lbl": "Glu688", "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": "11", "chr_pos": "105229631", "evidence": [ { "id": "rs3389213014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389213014" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "693", "end_pos": "693", "site_lbl": "Lys693", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105229645", "evidence": [ { "id": "rs3402721526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402721526" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "706", "end_pos": "706", "site_lbl": "Leu706", "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": "11", "chr_pos": "105229686", "evidence": [ { "id": "rs3389212085", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389212085" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "739", "end_pos": "739", "site_lbl": "Glu739", "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": "11", "chr_pos": "105231068", "evidence": [ { "id": "rs3389210196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389210196" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "771", "end_pos": "771", "site_lbl": "Phe771", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105231380", "evidence": [ { "id": "rs3389206609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389206609" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Trp78", "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": "11", "chr_pos": "105216446", "evidence": [ { "id": "rs3389206350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389206350" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "805", "end_pos": "805", "site_lbl": "Trp805", "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": "11", "chr_pos": "105231481", "evidence": [ { "id": "rs3402070760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402070760" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "825", "end_pos": "825", "site_lbl": "Arg825", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "11", "chr_pos": "105231923", "evidence": [ { "id": "rs3402741117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402741117" } ] } ] }, { "uniprot_canonical_ac": "Q64449-1", "start_pos": "836", "end_pos": "836", "site_lbl": "Tyr836", "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": "105231957", "evidence": [ { "id": "rs3389208402", "database": "dbSNP", "url": 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} ], "pmid": "" }, { "name": "melanosome membrane", "id": "GO:0033162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033162", "evidence": [ { "database": "UniProtKB", "id": "Q6NVG5", "url": "https://www.uniprot.org/uniprotkb/Q6NVG5" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "Q6NVG5", "url": "https://www.uniprot.org/uniprotkb/Q6NVG5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6NVG5-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Ser213", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NVG5", "url": "https://www.uniprot.org/uniprotkb/Q6NVG5" } ] } ] }, { "uniprot_canonical_ac": "Q6NVG5-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Tyr166", "weight": 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"glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 201, "chemical_mass": 21538.0, "gene_names": "Msc;Msc;MyoR;Myor;bHLHa22", "protein_name": "Musculin", "disease": [ { "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 } ], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "O88940", "url": "https://www.uniprot.org/uniprotkb/O88940" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O88940", "url": "https://www.uniprot.org/uniprotkb/O88940" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "O88940", "url": "https://www.uniprot.org/uniprotkb/O88940" } ], "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": "O88940", "url": "https://www.uniprot.org/uniprotkb/O88940" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "O88940", "url": 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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 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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": 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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). 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:8622", "name": "measles", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus (Morbillivirus hominis), which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash.", "url": "https://disease-ontology.org/term/DOID:8622", "evidence": [ { "id": "8622", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8622" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q02496", "url": "https://www.uniprot.org/uniprotkb/Q02496" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q02496", "url": "https://www.uniprot.org/uniprotkb/Q02496" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q02496", "url": "https://www.uniprot.org/uniprotkb/Q02496" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q02496", "url": "https://www.uniprot.org/uniprotkb/Q02496" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q02496", "url": "https://www.uniprot.org/uniprotkb/Q02496" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q02496", "url": "https://www.uniprot.org/uniprotkb/Q02496" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q02496", "url": "https://www.uniprot.org/uniprotkb/Q02496" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q02496", "url": "https://www.uniprot.org/uniprotkb/Q02496" } ], "pmid": "" } ], "biological_process": [ { "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": "Q02496", "url": "https://www.uniprot.org/uniprotkb/Q02496" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion mediated by integrin", "id": "GO:0033629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033629", "evidence": [ { "database": "UniProtKB", "id": "Q02496", "url": "https://www.uniprot.org/uniprotkb/Q02496" } ], "pmid": "" }, { "name": "negative regulation of transcription by competitive promoter binding", "id": "GO:0010944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010944", "evidence": [ { "database": "UniProtKB", 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} ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "A2AI05", "url": "https://www.uniprot.org/uniprotkb/A2AI05" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor", "id": "GO:0016653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016653", "evidence": [ { "database": "UniProtKB", "id": "A2AI05", "url": "https://www.uniprot.org/uniprotkb/A2AI05" } ], "pmid": "" }, { "name": "NADPH-hemoprotein reductase activity", "id": "GO:0003958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003958", "evidence": [ { "database": "UniProtKB", "id": "A2AI05", "url": "https://www.uniprot.org/uniprotkb/A2AI05" } ], "pmid": "" }, { "name": "NADPH-iron-sulfur [2Fe-2S] protein oxidoreductase activity", "id": "GO:0160246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160246", "evidence": [ { "database": "UniProtKB", "id": "A2AI05", "url": 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"database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9EQH7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Asn392", "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": 392, "start_aa": "Asn", "end_pos": 392, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn392", "evidence": [ { "id": "Q9EQH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9EQH7#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NES->KES); glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123421656", "evidence": [ { "id": "rs3388657763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388657763" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "658", "end_pos": "658", "site_lbl": "Asn658", "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": 658, "start_aa": "Asn", "end_pos": 658, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn658", "evidence": [ { "id": "Q9EQH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9EQH7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "794", "end_pos": "794", "site_lbl": "Asn794", "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": 794, "start_aa": "Asn", "end_pos": 794, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn794", "evidence": [ { "id": "Q9EQH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9EQH7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Ser394", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NES->NEL); glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123421651", "evidence": [ { "id": "rs3388666171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388666171" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Ile110", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123465642", "evidence": [ { "id": "rs3388658152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388658152" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Tyr133", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123465573", "evidence": [ { "id": "rs3388657797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388657797" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Ser168", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123465467", "evidence": [ { "id": "rs1133876823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133876823" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Phe177", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123465442", "evidence": [ { "id": "rs50990453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50990453" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Asn196", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123465384", "evidence": [ { "id": "rs3388666986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388666986" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ile309", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123465046", "evidence": [ { "id": "rs3393537330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393537330" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Asp310", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123465042", "evidence": [ { "id": "rs3393601845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393601845" } ] }, { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123465043", "evidence": [ { "id": "rs3393630761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393630761" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Asp311", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123465040", "evidence": [ { "id": "rs3393655191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393655191" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Ile312", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123465036", "evidence": [ { "id": "rs3393373108", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393373108" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Phe313", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123465033", "evidence": [ { "id": "rs3393647088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393647088" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Gly315", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123465027", "evidence": [ { "id": "rs3393392012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393392012" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Lys316", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123465023", "evidence": [ { "id": "rs3393596681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393596681" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Arg337", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123427961", "evidence": [ { "id": "rs3388652139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388652139" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Phe349", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123427924", "evidence": [ { "id": "rs3388667026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388667026" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Glu363", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123421743", "evidence": [ { "id": "rs3388663121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388663121" } ] }, { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123421744", "evidence": [ { "id": "rs3388658559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388658559" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123421745", "evidence": [ { "id": "rs3388663636", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388663636" } ] }, { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123421744_123421745insACTCTCCACACTACCTCAACCATCAC", "evidence": [ { "id": "rs3388657812", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388657812" }, { "id": "rs3388658559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388658559" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Asp373", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123421713", "evidence": [ { "id": "rs50905904", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50905904" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "395", "end_pos": "395", "site_lbl": "Ser395", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123421648", "evidence": [ { "id": "rs3388663058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388663058" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Ala419", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123400650", "evidence": [ { "id": "rs3388667007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388667007" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Ser421", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123400643", "evidence": [ { "id": "rs3388663091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388663091" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Ser44", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123465840", "evidence": [ { "id": "rs3388667052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388667052" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123465841", "evidence": [ { "id": "rs3388662822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388662822" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Tyr460", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123400526", "evidence": [ { "id": "rs3388651099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388651099" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Thr476", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123395203", "evidence": [ { "id": "rs3388658557", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388658557" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123465828", "evidence": [ { "id": "rs30406106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30406106" } ] } ] }, { "uniprot_canonical_ac": "Q9EQH7-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Gly491", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "3", "chr_pos": "123395157_123395158insACACTACCTCAACCATCAC", "evidence": [ { "id": "rs3388663035", "database": "dbSNP", "url": 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"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: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: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": 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"url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "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 } ], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "P54830", "url": "https://www.uniprot.org/uniprotkb/P54830" } ], "pmid": "" }, { "name": "peptidyl-tyrosine dephosphorylation", "id": "GO:0035335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035335", "evidence": [ { "database": "UniProtKB", "id": "P54830", "url": "https://www.uniprot.org/uniprotkb/P54830" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P54830", "url": "https://www.uniprot.org/uniprotkb/P54830" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P54830", "url": "https://www.uniprot.org/uniprotkb/P54830" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "P54830", "url": "https://www.uniprot.org/uniprotkb/P54830" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic potentiation", "id": "GO:1900273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900273", "evidence": [ { "database": "UniProtKB", "id": "P54830", "url": 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