[Term]
id: PR:000000871
name: voltage-gated potassium channel subunit KCNQ1 sequence variant F339del (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a single-residue deletion at the position equivalent to Phe-339 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P49747-1, 21-338, 340-757." [PRO:CNA, PRO:DAN, PMID:9702906]
comment: Category=organism-sequence. Note: This residue is located within segment S6.
synonym: "hKCNQ1/var:F339del" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P49747, 21-338, 340-757" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 59 (human)" EXACT [PRO:DNx]
synonym: "deltaF339" RELATED []
synonym: "UniProtKB:P49747-1, 21-338, 340-757" NARROW PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_001537
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens