[Term]
id: PR:000000907
name: voltage-gated potassium channel subunit KCNQ2 sequence variant S247W (human)
def: "A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Trp residue at the position equivalent to Ser-247 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Ser-247, CHEBI:29954." [PMID:12742592, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located within the transmembrane S5. This form reduces the current amplitude of KCNQ2 homomeric channels in a dominant-negative manner whereas the amplitude of KCNQ2/KCNQ3 heteromers is only reduced by about 40%.
synonym: "hKCNQ2/var:S247W" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O43526-1, Ser-247, CHEBI:29954" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ2 sequence variant 1 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_026991
is_a: PR:O43526 ! potassium voltage-gated channel subfamily KQT member 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens