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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant V417M (human) PR:000000889 - http://purl.obolibrary.org/obo/PR_000000889        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000889      PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant V417M (human)    Synonyms PRO-Short-label: EXACT: hKCNQ1/var:V417M PRO-proteoform-std: EXACT: UniProtKB:P51787, Val-417, CHEBI:16044 NARROW: UniProtKB:P51787-1, Val-417, CHEBI:16044 Other: EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 8 (human)   Definition "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Met residue at the position equivalent to Val-417 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Val-417, CHEBI:16044." [PMID:10704188, PRO:CNA, PRO:DAN]    Comment Note: This residue is located in the cytoplasmic C-terminus.    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_010934 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000889 hKCNQ1/var:V417M Example: UniProtKB:P51787-1, Val-417, CHEBI:16044 associated_with_disease_progression DO:2843 long QT syndrome PMID:10704188