[Term]
id: PR:000000909
name: voltage-gated potassium channel subunit KCNQ2 sequence variant R207W (human)
def: "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: Category=organism-sequence. 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.
synonym: "hKCNQ2/var:R207W" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O43526-1, Arg-207, CHEBI:29954" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ2 sequence variant 2 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_026987
is_a: PR:O43526 ! potassium voltage-gated channel subfamily KQT member 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens