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"4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] }, { "disease_id": "DOID:0111394", "name": "mucopolysaccharidosis type IIIB", "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.", "url": "http://disease-ontology.org/term/DOID:0111394", "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] }, { 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{ "id": "rs757325483", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757325483#frequency_tab" }, { "id": "rs757325483", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757325483" } ] } ], "uniprot_canonical_ac": "P54802-1", "glycoprotein": [ { "uniprot_canonical_ac": "P54802-1", "start_pos": 503, "end_pos": 503, "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": "Alpha-N-acetylglucosaminidase", "gene_name": "NAGLU", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 27.9, "length": 743, "chemical_mass": 82266.0 } ] }, { "start_pos": "433", "end_pos": "98", "site_lbl": "Asn433", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "4", "chr_pos": "22435456", "evidence": [ { "id": "rs1716357265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716357265" }, { "id": "rs1716357265", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716357265#frequency_tab" }, { "id": "rs1716357265", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716357265" } ] } ], "uniprot_canonical_ac": "Q8IWK6-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8IWK6-1", "start_pos": 433, "end_pos": 433, "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": "Adhesion G protein-coupled receptor A3", "gene_name": "ADGRA3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 6.1, "length": 1321, "chemical_mass": 146151.0 } ] }, { "start_pos": "138", "end_pos": "89", "site_lbl": "Asn138", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->DAS).", "chr_id": "NC_000011.10", "chr_pos": "7488409", "evidence": [] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAS->KAS).", "chr_id": "11", "chr_pos": "7488411", "evidence": [ { "id": "Q6UWY5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UWY5" }, { "id": "rs1848554218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848554218" }, { "id": "rs1848554218", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848554218#frequency_tab" } ], "disease": [ { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer 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"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": "71", "end_pos": "71", "site_lbl": "Asn71", "weight": 1.8, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->DNS).", "chr_id": "12", "chr_pos": "14553317", "evidence": [ { "id": "rs1162827704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1162827704" }, { "id": "rs1162827704", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1162827704#frequency_tab" }, { "id": "rs1162827704", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1162827704" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->SNS).", "chr_id": "12", "chr_pos": "14553316", "evidence": [ { "id": "rs376848008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376848008" }, { "id": "rs376848008", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376848008" }, { "id": "rs376848008", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376848008#frequency_tab" }, { "id": "rs376848008", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376848008" } ] } ], "uniprot_canonical_ac": "Q6P4A8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6P4A8-1", "start_pos": 71, "end_pos": 71, "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": "Phospholipase B-like 1", "gene_name": "PLBD1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 16.0, "length": 553, "chemical_mass": 63255.0 } ] }, { "start_pos": "102", "end_pos": "86", "site_lbl": "Asn102", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NST->SST).", "chr_id": "11", "chr_pos": "63014654", "evidence": [ { "id": "Q8TCC7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TCC7" } ], "disease": [ { "disease_id": "DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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