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"uniprot_canonical_ac": "O43451-2", "start_pos": 1323, "end_pos": 1323, "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": "Maltase-glucoamylase", "gene_name": "MGAM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 35.7, "length": 2753, "chemical_mass": 312022.0 } ] }, { "start_pos": "360", "end_pos": "87", "site_lbl": "Asn360", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->ILT).", "chr_id": "7", "chr_pos": "131508973", "evidence": [ { "id": "rs960596154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs960596154" }, { "id": "rs960596154", "database": "ENSEMBL", "url": 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n-glyco-sequon-loss (NDS->SDS).", "chr_id": "11", "chr_pos": "121470017", "evidence": [ { "id": "rs766916904", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766916904" }, { "id": "rs766916904", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766916904" }, { "id": "rs766916904", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766916904#frequency_tab" }, { "id": "rs766916904", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766916904" } ] } ], "uniprot_canonical_ac": "Q92673-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q92673-1", "start_pos": 99, "end_pos": 99, "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": "Sortilin-related receptor", 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"I", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NIT->IIT).", "chr_id": "6", "chr_pos": "46879838", "evidence": [ { "id": "Q8IZF2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IZF2" } ], "disease": [ { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ] } ], "uniprot_canonical_ac": "Q8IZF2-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8IZF2-1", "start_pos": 339, "end_pos": 339, "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 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"Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->KGT).", "chr_id": "16", "chr_pos": "263754", "evidence": [ { "id": "rs563568001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563568001" }, { "id": "rs563568001", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs563568001" }, { "id": "rs563568001", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563568001" }, { "id": "rs563568001", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs563568001#frequency_tab" }, { "id": "rs563568001", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs563568001" } ] } ], "uniprot_canonical_ac": "Q9H0X4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9H0X4-1", "start_pos": 389, "end_pos": 389, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": 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"database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Tubulointerstitial nephritis antigen-like", "gene_name": "TINAGL1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 25.2, "length": 467, "chemical_mass": 52387.0 } ] } ], "record_id": "G06247RL" }