[Term]
id: PR:000000863
name: voltage-gated potassium channel subunit KCNQ1 sequence variant W248R (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Trp-248 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Trp-248, CHEBI:29952." [PRO:CNA, PRO:DAN, PMID:10409658]
comment: Category=organism-sequence. Note: This residue is located within segment S4. This amino acid change affects the interaction with other channel subunits.
synonym: "hKCNQ1/var:W248R" EXACT PRO-short-label [PRO:DNx]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 51 (human)" EXACT [PRO:DNx]
synonym: "UniProtKB:P51787, Trp-248, CHEBI:29952" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:P51787-1, Trp-248, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_008942
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens