[Term]
id: PR:000000915
name: voltage-gated potassium channel subunit KCNQ2 sequence variant M208V (human)
def: "A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Val residue at the position equivalent to Met-208 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Met-208, CHEBI:30015." [PRO:CNA, PRO:DAN, PMID:14534157]
comment: Category=organism-sequence. Note: This mutation is located in the S4 transmembrane domain and causes minor effect on maximal current but clearly exhibits a faster rate of deactivation.
synonym: "hKCNQ2/var:M208V" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O43526, Met-208, CHEBI:30015" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ2 sequence variant 8 (human)" EXACT [PRO:DNx]
synonym: "UniProtKB:O43526-1, Met-208, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_026988
is_a: PR:O43526 ! potassium voltage-gated channel subfamily KQT member 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens