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"uniprot_canonical_ac": "O15460-1", "start_pos": 264, "end_pos": 264, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Prolyl 4-hydroxylase subunit alpha-2", "gene_name": "P4HA2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 12.3, "length": 535, "chemical_mass": 60902.0 } ] }, { "start_pos": "445", "end_pos": "9", "site_lbl": "Asn445", "weight": 0.0, "uniprot_canonical_ac": "Q9UKY4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9UKY4-1", "start_pos": 445, "end_pos": 445, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Protein O-mannosyl-transferase 2", "gene_name": "POMT2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 10.2, "length": 750, "chemical_mass": 84214.0 } ] }, { "start_pos": "66", "end_pos": "83", "site_lbl": "Asn66", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->DDS).", "chr_id": "9", "chr_pos": "128907360", "evidence": [ { "id": "rs1433648927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1433648927" }, { "id": "rs1433648927", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1433648927" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->SDS).", "chr_id": "9", "chr_pos": "128907361", "evidence": [ { "id": "rs1039809292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1039809292" }, { "id": "rs1039809292", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1039809292#frequency_tab" }, { "id": "rs1039809292", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1039809292" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Abolishes N-glycosylation; when associated with A-83.", "evidence": [ { "database": "UniProtKB", "id": "Q8IWT6", "url": "https://www.uniprot.org/uniprotkb/Q8IWT6" }, { "database": "PubMed", "id": "24790029", "url": "https://glygen.org/publication/PubMed/24790029" } ] } ], "uniprot_canonical_ac": "Q8IWT6-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8IWT6-1", "start_pos": 66, "end_pos": 66, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Volume-regulated anion channel subunit LRRC8A", "gene_name": "LRRC8A", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 11.8, "length": 810, "chemical_mass": 94199.0 } ] }, { "start_pos": "506", "end_pos": "653", "site_lbl": "Asn506", "weight": 0.0, "uniprot_canonical_ac": "Q92542-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q92542-1", "start_pos": 506, "end_pos": 506, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Nicastrin", "gene_name": "NCSTN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 47.7, "length": 709, "chemical_mass": 78411.0 } ] }, { "start_pos": "157", "end_pos": "295", "site_lbl": "Asn157", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "15", "chr_pos": "72353169", "evidence": [ { "id": "rs930231608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs930231608" }, { "id": "rs930231608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs930231608" } ], "disease": [ { "disease_id": "DOID:3320", "name": "Tay-Sachs disease", "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.", "url": "http://disease-ontology.org/term/DOID:3320", "evidence": [ { "id": "272800", "database": "MIM", "url": "https://www.omim.org/entry/272800" }, { "id": "3073", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/3073#disease" }, { "id": "3320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3320" } ] }, { "disease_id": "DOID:3320", "name": "Tay-Sachs disease", "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.", "url": "http://disease-ontology.org/term/DOID:3320", "evidence": [ { "id": "272800", "database": "MIM", "url": "https://www.omim.org/entry/272800" }, { "id": "3073", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/3073#disease" }, { "id": "3320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3320" } ] } ] }, { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "15", "chr_pos": "72353168", "evidence": [ { "id": "rs1314136638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1314136638" }, { "id": "rs1314136638", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1314136638" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "15", "chr_pos": "72353167", "evidence": [ { "id": "rs2542532794", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2542532794" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "No change of the catalytic activity associated with the alpha-chain. No catalytic activity associated with the alpha-chain; when associated with Q-115 and Q-295.", "evidence": [ { "database": "UniProtKB", "id": "P06865", "url": "https://www.uniprot.org/uniprotkb/P06865" }, { "database": "PubMed", "id": "1533633", "url": "https://glygen.org/publication/PubMed/1533633" } ] } ], "uniprot_canonical_ac": "P06865-1", "glycoprotein": [ { "uniprot_canonical_ac": "P06865-1", "start_pos": 157, "end_pos": 157, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Beta-hexosaminidase subunit alpha", "gene_name": "HEXA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 32.1, "length": 529, "chemical_mass": 60703.0 } ] }, { "start_pos": "91", "end_pos": "93", "site_lbl": "Asn91", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->KRT).", "chr_id": "15", "chr_pos": "73702448", "evidence": [ { "id": "rs1175956859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1175956859" }, { "id": "rs1175956859", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1175956859" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->SRT).", "chr_id": "15", "chr_pos": "73702447", "evidence": [ { "id": "rs368957019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368957019" }, { "id": "rs368957019", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368957019" }, { "id": "rs368957019", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368957019" } ] } ], "uniprot_canonical_ac": "Q5ZPR3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q5ZPR3-1", "start_pos": 91, "end_pos": 91, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "CD276 antigen", "gene_name": "CD276", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 24.6, "length": 534, "chemical_mass": 57235.0 } ] }, { "start_pos": "72", "end_pos": "74", "site_lbl": "Asn72", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->KTT).", "chr_id": "NC_000002.12", "chr_pos": "216578921", "evidence": [] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->STT).", "chr_id": "2", "chr_pos": "216500031", "evidence": [ { "id": "rs1695572742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1695572742" }, { "id": "rs1695572742", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1695572742#frequency_tab" } ] } ], "uniprot_canonical_ac": "P61513-1", "glycoprotein": [ { "uniprot_canonical_ac": "P61513-1", "start_pos": 72, "end_pos": 72, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Large ribosomal subunit protein eL43", "gene_name": "RPL37A", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 27.3, "length": 92, "chemical_mass": 10275.0 } ] }, { "start_pos": "405", "end_pos": "845", "site_lbl": "Asn405", "weight": 0.0, "uniprot_canonical_ac": "Q9HBB8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9HBB8-1", "start_pos": 405, "end_pos": 405, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Cadherin-related family member 5", "gene_name": "CDHR5", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 16.1, "length": 845, "chemical_mass": 88223.0 } ] }, { "start_pos": "1683", "end_pos": "88", "site_lbl": "Asn1683", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->KTT).", "chr_id": "9", "chr_pos": "14770615", "evidence": [ { "id": "rs200063334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200063334" }, { "id": "rs200063334", "database": "1000Genomes", "url": 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"residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "FRAS1-related extracellular matrix protein 1", "gene_name": "FREM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 3.6, "length": 2179, "chemical_mass": 244154.0 } ] }, { "start_pos": "129", "end_pos": "87", "site_lbl": "Asn129", "weight": 0.0, "uniprot_canonical_ac": "A8MVW5-1", "glycoprotein": [ { "uniprot_canonical_ac": "A8MVW5-1", "start_pos": 129, "end_pos": 129, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "HEPACAM family member 2", "gene_name": "HEPACAM2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 4.4, "length": 462, "chemical_mass": 51407.0 } ] }, { "start_pos": "52", "end_pos": "9", "site_lbl": "Asn52", "weight": 0.0, "uniprot_canonical_ac": "Q6NUS8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6NUS8-1", "start_pos": 52, "end_pos": 52, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "UDP-glucuronosyltransferase 3A1", "gene_name": "UGT3A1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 8.2, "length": 523, "chemical_mass": 59151.0 } ] }, { "start_pos": "729", "end_pos": "98", "site_lbl": "Asn729", "weight": 0.0, "uniprot_canonical_ac": "Q9H4D0-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9H4D0-1", "start_pos": 729, "end_pos": 729, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Calsyntenin-2", "gene_name": "CLSTN2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 3.9, "length": 955, "chemical_mass": 107006.0 } ] }, { "start_pos": "227", "end_pos": "95", "site_lbl": "Asn227", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->TQT).", "chr_id": "8", "chr_pos": "73067456", "evidence": [ { "id": "rs773889462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773889462" }, { "id": "rs773889462", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773889462" }, { "id": "rs773889462", "database": "TOPMed", "url": 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