[Term]
id: PR:000000854
name: voltage-gated potassium channel subunit KCNQ1 sequence variant R539W (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Trp residue at the position equivalent to Arg-539 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-539, CHEBI:29954." [PRO:CNA, PRO:DAN, PMID:10728423]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus. This amino acid change affects the interaction with other channel subunits.
synonym: "hKCNQ1/var:R539W" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787, Arg-539, CHEBI:29954" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 43 (human)" EXACT [PRO:DNx]
synonym: "UniProtKB:P51787-1, Arg-539, CHEBI:29954" NARROW PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_008950
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens