[Term]
id: PR:000000913
name: voltage-gated potassium channel subunit KCNQ2 sequence variant A306T (human)
def: "A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Thr residue at the position equivalent to Ala-306 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Ala-306, CHEBI:30013." [PRO:CNA, PRO:DAN, PMID:10788442]
comment: Category=organism-sequence. Note: This mutation is located in transmembrane domain S6 and causes a reduction of wild type heteromeric currents.
synonym: "hKCNQ2/var:A306T" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O43526, Ala-306, CHEBI:30013" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ2 sequence variant 6 (human)" EXACT [PRO:DNx]
synonym: "UniProtKB:O43526-1, Ala-306, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_010931
is_a: PR:O43526 ! potassium voltage-gated channel subfamily KQT member 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens