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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant V307L (human) PR:000000870 - http://purl.obolibrary.org/obo/PR_000000870        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000870      PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant V307L (human)    Synonyms PRO-Short-label: EXACT: hKCNQ1/var:V307L PRO-proteoform-std: EXACT: UniProtKB:P51787, Val-307, CHEBI:30006 NARROW: UniProtKB:P51787-1, Val-307, CHEBI:30006 Other: EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 58 (human)   Definition "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Leu residue at the position equivalent to Val-307 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Val-307, CHEBI:30006." [PMID:15159330, PRO:CNA, PRO:DAN]    Comment Note: This residue is located in the pore region between segments S5 and 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_023841 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000870 hKCNQ1/var:V307L Example: UniProtKB:P51787-1, Val-307, CHEBI:30006 associated_with_disease_progression DO:0050793 short QT syndrome PMID:15159330 enables increased GO:0005267 potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod PMID:15159330 located_in SO:0001557 polypeptide_gain_of_function_variant PMID:15159330