[Term]
id: PR:000000912
name: voltage-gated potassium channel subunit KCNQ2 sequence variant Y284C (human)
def: "A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Cys residue at the position equivalent to Tyr-284 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Tyr-284, CHEBI:29950." [PMID:10788442, PMID:9425895, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This mutation is located in the pore region and produces a reduction of wild type heteromeric currents.
synonym: "hKCNQ2/var:Y284C" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O43526-1, Tyr-284, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ2 sequence variant 5 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_010930
is_a: PR:O43526 ! potassium voltage-gated channel subfamily KQT member 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens