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Protein Ontology report - voltage-gated potassium channel subunit KCNQ2 sequence variant R207W (human) PR:000000909 - http://purl.obolibrary.org/obo/PR_000000909        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000909      PRO name voltage-gated potassium channel subunit KCNQ2 sequence variant R207W (human)    Synonyms PRO-Short-label: EXACT: hKCNQ2/var:R207W PRO-proteoform-std: EXACT: UniProtKB:O43526, Arg-207, CHEBI:29954 NARROW: UniProtKB:O43526-1, Arg-207, CHEBI:29954 Other: EXACT: voltage-gated potassium channel subunit KCNQ2 sequence variant 2 (human)   Definition "A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Trp residue at the position equivalent to Arg-207 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Arg-207, CHEBI:29954." [PMID:11572947, PRO:CNA, PRO:DAN]    Comment Note: This mutation neutralizes a charged amino acid in the S4 voltage-sensor segment of KCNQ2, and leads to a shift of voltage-dependent activation of KCNQ2 and a dramatic slowing of activation upon depolarization.    PRO Category organism-sequence    Parent PR:O43526 potassium voltage-gated channel subfamily KQT member 2 (human)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_026987 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000909 hKCNQ2/var:R207W Example: UniProtKB:O43526-1, Arg-207, CHEBI:29954 associated_with_disease_progression DO:14264 benign neonatal seizures PMID:11572947 enables decreased GO:0005249 voltage-gated potassium channel activity relative to PR:000002632 KCNQ2/iso:2/UnMod PMID:11572947