[Term]
id: PR:000000886
name: voltage-gated potassium channel subunit KCNQ1 sequence variant G269D (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asp residue at the position equivalent to Gly-269 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-269, CHEBI:29958." [PRO:CNA, PRO:DAN, PMID:10704188]
comment: Category=organism-sequence. Note: This residue is located within segment S5.
synonym: "hKCNQ1/var:G269D" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787, Gly-269, CHEBI:29958" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 72 (human)" EXACT [PRO:DNx]
synonym: "UniProtKB:P51787-1, Gly-269, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_001524
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens