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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant L342F (human) PR:000000849 - http://purl.obolibrary.org/obo/PR_000000849        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000849      PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant L342F (human)    Synonyms PRO-Short-label: EXACT: hKCNQ1/var:L342F PRO-proteoform-std: EXACT: UniProtKB:P51787, Leu-342, CHEBI:29997 NARROW: UniProtKB:P51787-1, Leu-342, CHEBI:29997 Other: EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 39 (human)   Definition "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Phe residue at the position equivalent to Leu-342 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Leu-342, CHEBI:29997." [PMID:10704188, PRO:CNA, PRO:DAN]    Comment Note: This residue is located within the segment S6.    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_001540 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000849 hKCNQ1/var:L342F Example: UniProtKB:P51787-1, Leu-342, CHEBI:29997 associated_with_disease_progression DO:2843 long QT syndrome PMID:10704188