{ "title": "Familial overexpression of beta-antithrombin caused by an Asn135-to-Thr substitution.", "journal": "Blood", "date": "1999", "authors": "Bayston TA, Tripodi A, Mannucci PM, Thompson E, Ireland H, Fitches AC, Hananeia L, Olds RJ, Lane DA", "reference": { "type": "PubMed", "id": "10361121", "url": "https://pubmed.ncbi.nlm.nih.gov/10361121" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P01008-1", "protein_name": "Antithrombin-III", "gene_name": "SERPINC1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P01008", "url": "https://www.uniprot.org/uniprot/P01008" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121909570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909570" }, { "id": "rs121909570", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121909570#frequency_tab" }, { "id": "rs121909570", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121909570" }, { "id": "10361121", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10361121" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 167, "end_pos": 167, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->TKS).", "chr_id": "1", "chr_pos": "173911923", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N167", "disease": [ { "disease_id": "DOID:3755", "recommended_name": { "id": "DOID:3755", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3755", "name": "antithrombin III deficiency", "description": "A thrombophilia that is characterized by the tendency to form clots in the veins." }, "synonyms": [ { "id": "DOID:3755", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3755", "name": "AT III deficiency", "description": "" }, { "id": "DOID:3755", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3755", "name": "hereditary thrombophilia due to congenital antithrombin deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "hereditary antithrombin deficiency", "description": "A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)." }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "AT III deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "AT3D", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "Antithrombin Deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "antithrombin 3 deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "antithrombin III deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "congenital AT-III deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "congenital antithrombin III deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "hereditary antithrombin deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "hereditary thrombophilia due to congenital antithrombin 3 deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "hereditary thrombophilia due to congenital antithrombin deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "inherited antithrombin deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "thrombophilia 7 due to antithrombin III deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "thrombophilia due to antithrombin 3 deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "thrombophilia due to antithrombin III deficiency", "description": "" }, { "id": "MIM:613118", "resource": "MIM", "url": "https://www.omim.org/entry/613118", "name": "Antithrombin III deficiency", "description": "Antithrombin III deficiency" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "uniprot_canonical_ac": "P01008-1" } ], "record_id": "pubmed.10361121", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": 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