{ "glytoucan_ac": "G07617FP", "species": [ { "taxid": 9606, "name": "Homo sapiens", "annotation_category": "direct", "evidence": [ { "database": "GlyConnect", "id": "1964", "url": "https://glyconnect.expasy.org/browser/structures/1964" }, { "database": "GlyGen", "id": "GLY_001412", "url": "https://data.glygen.org/GLY_001412" }, { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "PubMed", "id": "19704023", "url": "https://glygen.org/publication/PubMed/19704023" }, { "database": "PubMed", "id": "23106217", "url": "https://glygen.org/publication/PubMed/23106217" }, { "database": "PubMed", "id": "24385486", "url": "https://glygen.org/publication/PubMed/24385486" }, { "database": "PubMed", "id": "26388028", "url": "https://glygen.org/publication/PubMed/26388028" }, { "database": "PubMed", "id": "27114034", "url": "https://glygen.org/publication/PubMed/27114034" }, { "database": "PubMed", "id": "27617431", "url": "https://glygen.org/publication/PubMed/27617431" }, { "database": "PubMed", "id": "28100831", "url": "https://glygen.org/publication/PubMed/28100831" }, { "database": "PubMed", "id": "28423342", "url": "https://glygen.org/publication/PubMed/28423342" }, { "database": "PubMed", "id": "29287995", "url": "https://glygen.org/publication/PubMed/29287995" }, { "database": "PubMed", "id": "29769533", "url": "https://glygen.org/publication/PubMed/29769533" }, { "database": "PubMed", "id": "30069035", "url": "https://glygen.org/publication/PubMed/30069035" }, { "database": "PubMed", "id": "30209313", "url": "https://glygen.org/publication/PubMed/30209313" }, { "database": "PubMed", "id": "31142836", "url": "https://glygen.org/publication/PubMed/31142836" }, { "database": "PubMed", "id": "31792452", "url": "https://glygen.org/publication/PubMed/31792452" }, { "database": "PubMed", "id": "32004464", "url": "https://glygen.org/publication/PubMed/32004464" }, { "database": "PubMed", "id": "33782388", "url": "https://glygen.org/publication/PubMed/33782388" }, { "database": "PubMed", "id": "34272380", "url": "https://glygen.org/publication/PubMed/34272380" }, { "database": "PubMed", "id": "37209096", "url": "https://glygen.org/publication/PubMed/37209096" }, { "database": "PubMed", "id": "37544422", "url": "https://glygen.org/publication/PubMed/37544422" }, { "database": "PubMed", "id": "38642076", "url": "https://glygen.org/publication/PubMed/38642076" }, { "database": "PubMed", "id": "38665238", "url": "https://glygen.org/publication/PubMed/38665238" }, { "database": "PubMed", "id": "39582378", "url": "https://glygen.org/publication/PubMed/39582378" }, { "database": "PubMed", "id": "39826122", "url": "https://glygen.org/publication/PubMed/39826122" }, { "database": "PubMed", "id": "39843743", "url": "https://glygen.org/publication/PubMed/39843743" }, { "database": "UniCarbKB", "id": "GLY_000341", "url": "http://data.glygen.org/GLY_000341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mass": 1234.43, "classification": [ { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "High mannose", "url": "" } } ], "composition": [ { "name": "6-Deoxy-Hexose", "residue": "dhex", "count": 0, "cid": "840", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/840" }, { "name": "Hexose", "residue": "hex", "count": 5, "cid": "206", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/206" }, { "name": "N-Acetylhexosamine", "residue": "hexnac", "count": 2, "cid": "899", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/899" }, { "name": "Hexuronic Acid", "residue": "hexa", "count": 0, "cid": "610", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/610" }, { "name": "2-Amino-2-Deoxy-Hexose", "residue": "hexn", "count": 0, "cid": "739", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/739" }, { "name": "N-Acetyl-Neuraminic Acid", "residue": "neuac", "count": 0, "cid": "439197", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/439197" }, { "name": "N-Glycolyl-Neuraminic Acid", "residue": "neugc", "count": 0, "cid": "440001", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/440001" }, { "name": "Phosphate", "residue": "p", "count": 0, "cid": "1061", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/1061" }, { "name": "Pentose", "residue": "pent", "count": 0, "cid": "229", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/229" }, { "name": "Sulfate", "residue": "s", "count": 0, "cid": "1117", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/1117" }, { "name": "Other", "residue": "other", "count": 0 } ], "motifs": [], "enzyme": [], "biomarkers": [], "binding_proteins": [], "sites": [ { "start_pos": "124", "site_seq": "N", "site_lbl": "Asn124", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 124, "end_pos": 124, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "124", "site_seq": "LGIYADMGnFTCMGYPGTTLDK", "site_lbl": "Asn124", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 124, "end_pos": 124, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "177", "site_seq": "MAAALNATGR", "site_lbl": "Asn177", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 177, "end_pos": 177, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "177", "site_seq": "N", "site_lbl": "Asn177", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 177, "end_pos": 177, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "201", "site_seq": "VnYSLLADICNLWR", "site_lbl": "Asn201", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 201, "end_pos": 201, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "201", "site_seq": "N", "site_lbl": "Asn201", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 201, "end_pos": 201, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "359", "site_seq": "N", "site_lbl": "Asn359", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 359, "end_pos": 359, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "359", "site_seq": "YHSSLGQLNFTGSVIYEAQDVYSGDIISGLR", "site_lbl": "Asn359", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 359, "end_pos": 359, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "385", "site_seq": "N", "site_lbl": "Asn385", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 385, "end_pos": 385, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "124", "site_seq": "", "site_lbl": "N124", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "22", "chr_pos": "42067244", "evidence": [ { "id": "rs374661289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374661289" }, { "id": "rs374661289", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374661289" }, { "id": "rs374661289", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374661289#frequency_tab" }, { "id": "rs374661289", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374661289" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 124, "end_pos": 124, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "177", "site_seq": "", "site_lbl": "N177", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "22", "chr_pos": "42066778", "evidence": [ { "id": "rs749495971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749495971" }, { "id": "rs749495971", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749495971#frequency_tab" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 177, "end_pos": 177, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "201", "site_seq": "", "site_lbl": "N201", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "22", "chr_pos": "42065895", "evidence": [ { "id": "rs1374713161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374713161" }, { "id": "rs1374713161", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1374713161#frequency_tab" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 201, "end_pos": 201, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "385", "site_seq": "", "site_lbl": "N385", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "22", "chr_pos": "42060361", "evidence": [ { "id": "rs1315873565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1315873565" }, { "id": "rs1315873565", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1315873565#frequency_tab" }, { "id": "rs1315873565", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1315873565" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 385, "end_pos": 385, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "201", "site_seq": "", "site_lbl": "", "residue": "", "mutagenesis": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "Q", "comment": "Loss of glycosylation site; no effect on enzyme activity and stability.", "evidence": [ { "database": "UniProtKB", "id": "P17050", "url": "https://www.uniprot.org/uniprotkb/P17050" }, { "database": "PubMed", "id": "19683538", "url": "https://glygen.org/publication/PubMed/19683538" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 201, "end_pos": 201, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "296", "site_seq": "N", "site_lbl": "Asn296", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P06756-1", "start_pos": 296, "end_pos": 296, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "4G1M", "url": "https://www.rcsb.org/structure/4G1M" } ], "protein_name": "Integrin alpha-V", "gene_name": "ITGAV", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1048, "chemical_mass": 116038.0 } ] }, { "start_pos": "296", "site_seq": "", "site_lbl": "N296", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->SFT).", "chr_id": "2", "chr_pos": "186638449", "evidence": [ { "id": "rs777559283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777559283" }, { "id": "rs777559283", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777559283" }, { "id": "rs777559283", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777559283#frequency_tab" }, { "id": "rs777559283", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777559283" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P06756-1", "start_pos": 296, "end_pos": 296, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "4G1M", "url": "https://www.rcsb.org/structure/4G1M" } ], "protein_name": "Integrin alpha-V", "gene_name": "ITGAV", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1048, "chemical_mass": 116038.0 } ] }, { "start_pos": "392", "site_seq": "N", "site_lbl": "Asn392", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P20702-1", "start_pos": 392, "end_pos": 392, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "4NEH", "url": "https://www.rcsb.org/structure/4NEH" } ], "protein_name": "Integrin alpha-X", "gene_name": "ITGAX", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1163, "chemical_mass": 127829.0 } ] }, { "start_pos": "392", "site_seq": "", "site_lbl": "N392", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMS->DMS).", "chr_id": "16", "chr_pos": "31362162", "evidence": [ { "id": "rs2142492684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2142492684" }, { "id": "rs2142492684", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2142492684" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMS->KMS).", "chr_id": "16", "chr_pos": "31362164", "evidence": [ { "id": "rs1235521154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235521154" }, { "id": "rs1235521154", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1235521154#frequency_tab" }, { "id": "rs1235521154", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235521154" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NMS->TMS).", "chr_id": "16", "chr_pos": "31362163", "evidence": [ { "id": "P20702", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20702" } ], "disease": [ { "disease_id": "DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.", "url": "http://disease-ontology.org/term/DOID:4159", "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P20702-1", "start_pos": 392, "end_pos": 392, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "4NEH", "url": "https://www.rcsb.org/structure/4NEH" } ], "protein_name": "Integrin alpha-X", "gene_name": "ITGAX", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1163, "chemical_mass": 127829.0 } ] }, { "start_pos": "222", "site_seq": "N", "site_lbl": "Asn222", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P29460-1", "start_pos": 222, "end_pos": 222, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "5MZV", "url": "https://www.rcsb.org/structure/5MZV" } ], "protein_name": "Interleukin-12 subunit beta", "gene_name": "IL12B", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 328, "chemical_mass": 37169.0 } ] }, { "start_pos": "275", "site_seq": "N", "site_lbl": "Asn275", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01854-2", "start_pos": 275, "end_pos": 275, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "6EYO", "url": "https://www.rcsb.org/structure/6EYO" } ], "protein_name": "Immunoglobulin heavy constant epsilon", "gene_name": "IGHE", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 546, "chemical_mass": 59539.0 } ] }, { "start_pos": "293", "site_seq": "N", "site_lbl": "Asn293", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9NR97-1", "start_pos": 293, "end_pos": 293, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "7CRF", "url": "https://www.rcsb.org/structure/7CRF" } ], "protein_name": "Toll-like receptor 8", "gene_name": "TLR8", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1041, "chemical_mass": 119828.0 } ] }, { "start_pos": "293", "site_seq": "YLnLSSTSLR", "site_lbl": "Asn293", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9NR97-1", "start_pos": 293, "end_pos": 293, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "7CRF", "url": "https://www.rcsb.org/structure/7CRF" } ], "protein_name": "Toll-like receptor 8", "gene_name": "TLR8", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1041, "chemical_mass": 119828.0 } ] }, { "start_pos": "590", "site_seq": "N", "site_lbl": "Asn590", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9NR97-1", "start_pos": 590, "end_pos": 590, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "7YTX", "url": "https://www.rcsb.org/structure/7YTX" } ], "protein_name": "Toll-like receptor 8", "gene_name": "TLR8", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1041, "chemical_mass": 119828.0 } ] }, { "start_pos": "590", "site_seq": "VLnLSHNNIYTLTDK", "site_lbl": "Asn590", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9NR97-1", "start_pos": 590, "end_pos": 590, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "7YTX", "url": "https://www.rcsb.org/structure/7YTX" } ], "protein_name": "Toll-like receptor 8", "gene_name": "TLR8", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1041, "chemical_mass": 119828.0 } ] }, { "start_pos": "138", "site_seq": "N", "site_lbl": "Asn138", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P47869-1", "start_pos": 138, "end_pos": 138, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "9CRV", "url": "https://www.rcsb.org/structure/9CRV" } ], "protein_name": "Gamma-aminobutyric acid receptor subunit alpha-2", "gene_name": "GABRA2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 451, "chemical_mass": 51326.0 } ] }, { "start_pos": "138", "site_seq": "", "site_lbl": "N138", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NMT->IMT).", "chr_id": "4", "chr_pos": "46312559", "evidence": [ { "id": "P47869", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P47869" } ], "disease": [ { "disease_id": "DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.", "url": "http://disease-ontology.org/term/DOID:4159", "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NMT->SMT).", "chr_id": "4", "chr_pos": "46312559", "evidence": [ { "id": "P47869", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P47869" } ], "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P47869-1", "start_pos": 138, "end_pos": 138, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "9CRV", "url": "https://www.rcsb.org/structure/9CRV" } ], "protein_name": "Gamma-aminobutyric acid receptor subunit alpha-2", "gene_name": "GABRA2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 451, "chemical_mass": 51326.0 } ] }, { "start_pos": "138", "site_seq": "N", "site_lbl": "Asn138", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P14867-1", "start_pos": 138, "end_pos": 138, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "9CSB", "url": "https://www.rcsb.org/structure/9CSB" }, { "database": "RCSB PDB", "id": "9CT0", "url": "https://www.rcsb.org/structure/9CT0" }, { "database": "RCSB PDB", "id": "9CTJ", "url": "https://www.rcsb.org/structure/9CTJ" }, { "database": "RCSB PDB", "id": "9CXA", "url": "https://www.rcsb.org/structure/9CXA" } ], "protein_name": "Gamma-aminobutyric acid receptor subunit alpha-1", "gene_name": "GABRA1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 456, "chemical_mass": 51802.0 } ] }, { "start_pos": "138", "site_seq": "", "site_lbl": "N138", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NMT->KMT).", "chr_id": "5", "chr_pos": "161873275", "evidence": [ { "id": "P14867", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P14867" } ], "disease": [ { "disease_id": "DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus.", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMT->SMT).", "chr_id": "5", "chr_pos": "161873274", "evidence": [ { "id": "rs1416596044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416596044" }, { "id": "rs1416596044", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416596044" } ], "disease": [ { "disease_id": "DOID:0111314", "name": "obsolete idiopathic generalized epilepsy 13", "description": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34.", "url": "http://disease-ontology.org/term/DOID:0111314", "evidence": [ { "id": "611136", "database": "MIM", "url": "https://www.omim.org/entry/611136" } ] }, { "disease_id": "DOID:0111314", "name": "obsolete idiopathic generalized epilepsy 13", "description": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34.", "url": "http://disease-ontology.org/term/DOID:0111314", "evidence": [ { "id": "611136", "database": "MIM", "url": "https://www.omim.org/entry/611136" } ] }, { "disease_id": "DOID:1827", "name": "generalized epilepsy", "description": "An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.", "url": "http://disease-ontology.org/term/DOID:1827", "evidence": [ { "id": "1827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1827" } ] }, { "disease_id": "DOID:1827", "name": "generalized epilepsy", "description": "An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.", "url": "http://disease-ontology.org/term/DOID:1827", "evidence": [ { "id": "1827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1827" } ] } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMT->TMT).", "chr_id": "NC_000005.10", "chr_pos": "161873274", "evidence": [] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P14867-1", "start_pos": 138, "end_pos": 138, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "9CSB", "url": "https://www.rcsb.org/structure/9CSB" }, { "database": "RCSB PDB", "id": "9CT0", "url": "https://www.rcsb.org/structure/9CT0" }, { "database": "RCSB PDB", "id": "9CTJ", "url": "https://www.rcsb.org/structure/9CTJ" }, { "database": "RCSB PDB", "id": "9CXA", "url": "https://www.rcsb.org/structure/9CXA" } ], "protein_name": "Gamma-aminobutyric acid receptor subunit alpha-1", "gene_name": "GABRA1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 456, "chemical_mass": 51802.0 } ] }, { "start_pos": "304", "site_seq": "N", "site_lbl": "Asn304", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17643-1", "start_pos": 304, "end_pos": 304, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "9EY8", "url": "https://www.rcsb.org/structure/9EY8" } ], "protein_name": "5,6-dihydroxyindole-2-carboxylic acid oxidase", "gene_name": "TYRP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 537, "chemical_mass": 60724.0 } ] }, { "start_pos": "304", "site_seq": "", "site_lbl": "N304", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NST->HST).", "chr_id": "9", "chr_pos": "12698652", "evidence": [ { "id": "P17643", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P17643" } ], "disease": [ { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P17643-1", "start_pos": 304, "end_pos": 304, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "9EY8", "url": "https://www.rcsb.org/structure/9EY8" } ], "protein_name": "5,6-dihydroxyindole-2-carboxylic acid oxidase", "gene_name": "TYRP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 537, "chemical_mass": 60724.0 } ] }, { "start_pos": "225", "site_seq": "N", "site_lbl": "Asn225", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01880-2", "start_pos": 225, "end_pos": 225, "residue": "ASN", "evidence": [ { "database": "RCSB PDB", "id": "9FMB", "url": "https://www.rcsb.org/structure/9FMB" } ], "protein_name": "Immunoglobulin heavy constant delta", "gene_name": "IGHD", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 430, "chemical_mass": 47500.0 } ] } ], "record_id": "G07617FP" }