[Term]
id: PR:000000867
name: voltage-gated potassium channel subunit KCNQ1 sequence variant V254M (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Met residue at the position equivalent to Val-254 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Val-254, CHEBI:16044." [PRO:CNA, PRO:DAN, PMID:10704188]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:V254M" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787, Val-254, CHEBI:16044" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 55 (human)" EXACT [PRO:DNx]
synonym: "UniProtKB:P51787-1, Val-254, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_001522
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens