[Term]
id: PR:000000921
name: voltage-gated potassium channel subunit KCNQ4 sequence variant L274H (human)
def: "A potassium voltage-gated channel subfamily KQT member 4 (human) that has a His residue at the position equivalent to Leu-274 of the amino acid sequence represented by UniProtKB:P56696-1. Example: UniProtKB:P56696-1, Leu-274, CHEBI:29979." [PMID:10925378, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the pore region located between segments S5 and S6.
synonym: "hKCNQ4/var:L274H" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P56696-1, Leu-274, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ4 sequence variant 2 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_010936
is_a: PR:P56696 ! potassium voltage-gated channel subfamily KQT member 4 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens