[ { "title": "A novel mutation in neonatal isolated sulphite oxidase deficiency.", "journal": "Neuropediatrics", "date": "2002", "authors": "Lee HF, Mak BS, Chi CS, Tsai CR, Chen CH, Shu SG", "reference": { "type": "PubMed", "id": "12368985", "url": "https://pubmed.ncbi.nlm.nih.gov/12368985" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P51687-1", "protein_name": "Sulfite oxidase, mitochondrial", "gene_name": "SUOX", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51687", "url": "https://www.uniprot.org/uniprotkb/P51687" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12368985", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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oxidase cytochrome b(5) domain.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "2003", "authors": "Rudolph MJ, Johnson JL, Rajagopalan KV, Kisker C", "reference": { "type": "PubMed", "id": "12832761", "url": "https://pubmed.ncbi.nlm.nih.gov/12832761" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P51687-1", "protein_name": "Sulfite oxidase, mitochondrial", "gene_name": "SUOX", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51687", "url": "https://www.uniprot.org/uniprotkb/P51687" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12832761", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "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" ] 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Biol.", "date": "2003", "authors": "Velyvis Algirdas, Vaynberg Julia, Yang Yanwu, Vinogradova Olga, Zhang Yongjun, Wu Chuanyue, Qin Jun", "reference": { "type": "PubMed", "id": "12794636", "url": "https://pubmed.ncbi.nlm.nih.gov/12794636" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P48059-1", "protein_name": "LIM and senescent cell antigen-like-containing domain protein 1", "gene_name": "LIMS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48059", "url": "https://www.uniprot.org/uniprotkb/P48059" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12794636", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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with L-602.", "evidence": [ { "database": "UniProtKB", "id": "P51787", "url": "https://www.uniprot.org/uniprotkb/P51787" }, { "database": "PubMed", "id": "11799244", "url": "https://pubmed.ncbi.nlm.nih.gov/11799244" } ], "uniprot_canonical_ac": "P51787-1" } ], "phosphorylation": [ { "start_pos": 27, "end_pos": 27, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKA", "evidence": [ { "database": "UniProtKB", "id": "P51787", "url": "https://www.uniprot.org/uniprotkb/P51787" }, { "database": "iPTMnet", "id": "P51787", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51787" }, { "database": "PubMed", "id": "22095730", "url": "https://pubmed.ncbi.nlm.nih.gov/22095730" }, { "database": "PubMed", "id": "25037568", "url": "https://pubmed.ncbi.nlm.nih.gov/25037568" }, { "database": "PubMed", "id": "31461851", "url": "https://pubmed.ncbi.nlm.nih.gov/31461851" }, { "database": "PubMed", "id": "11799244", "url": 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"KCNQ1 gain-of-function mutation in familial atrial fibrillation.", "journal": "Science (New York, N.Y.)", "date": "2003", "authors": "Chen YH, Xu SJ, Bendahhou S, Wang XL, Wang Y, Xu WY, Jin HW, Sun H, Su XY, Zhuang QN, Yang YQ, Li YB, Liu Y, Xu HJ, Li XF, Ma N, Mou CP, Chen Z, Barhanin J, Huang W", "reference": { "type": "PubMed", "id": "12522251", "url": "https://pubmed.ncbi.nlm.nih.gov/12522251" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P51787-1", "protein_name": "Potassium voltage-gated channel subfamily KQT member 1", "gene_name": "KCNQ1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51787", "url": "https://www.uniprot.org/uniprotkb/P51787" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12522251", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], 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associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.", "journal": "BMC medical genetics", "date": "2008", "authors": "Zhang S, Yin K, Ren X, Wang P, Zhang S, Cheng L, Yang J, Liu JY, Liu M, Wang QK", "reference": { "type": "PubMed", "id": "18400097", "url": "https://pubmed.ncbi.nlm.nih.gov/18400097" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P51787-1", "protein_name": "Potassium voltage-gated channel subfamily KQT member 1", "gene_name": "KCNQ1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51787", "url": "https://www.uniprot.org/uniprotkb/P51787" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18400097", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.", "journal": "Circulation", "date": "1998", "authors": "Li H, Chen Q, Moss AJ, Robinson J, Goytia V, Perry JC, Vincent GM, Priori SG, Lehmann MH, Denfield SW, Duff D, Kaine S, Shimizu W, Schwartz PJ, Wang Q, Towbin JA", "reference": { "type": "PubMed", "id": "9570196", "url": "https://pubmed.ncbi.nlm.nih.gov/9570196" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P51787-1", "protein_name": "Potassium voltage-gated channel subfamily KQT member 1", "gene_name": "KCNQ1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51787", "url": "https://www.uniprot.org/uniprotkb/P51787" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9570196", 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channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.", "journal": "European journal of human genetics : EJHG", "date": "1998", "authors": "Neyroud N, Denjoy I, Donger C, Gary F, Villain E, Leenhardt A, Benali K, Schwartz K, Coumel P, Guicheney P", "reference": { "type": "PubMed", "id": "9781056", "url": "https://pubmed.ncbi.nlm.nih.gov/9781056" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P51787-1", "protein_name": "Potassium voltage-gated channel subfamily KQT member 1", "gene_name": "KCNQ1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51787", "url": "https://www.uniprot.org/uniprotkb/P51787" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9781056", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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