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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant D317N (human) PR:000000820 - http://purl.obolibrary.org/obo/PR_000000820        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000820      PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant D317N (human)    Synonyms PRO-Short-label: EXACT: hKCNQ1/var:D317N PRO-proteoform-std: EXACT: UniProtKB:P51787, Asp-317, CHEBI:50347 NARROW: UniProtKB:P51787-1, Asp-317, CHEBI:50347 Other: EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 12 (human)   Definition "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asn residue at the position equivalent to Asp-317 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Asp-317, CHEBI:50347." [PMID:9302275, PRO:CNA, PRO:DAN]    PRO Category organism-sequence    Parent PR:P51787 potassium voltage-gated channel subfamily KQT member 1 (human)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_001534 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000820 hKCNQ1/var:D317N UniProtKB:P51787, Asp-317, CHEBI:50347 | UniProtKB:P51787-1, Asp-317, CHEBI:50347 | voltage-gated potassium channel subunit KCNQ1 sequence variant 12 (human) "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asn residue at the position equivalent to Asp-317 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Asp-317, CHEBI:50347." [PMID:9302275, PRO:CNA, PRO:DAN] associated_with_disease_progression DO:2843 long QT syndrome PMID:10704188; PMID:9302275; PMID:9482580