[Term]
id: PR:000063254
name: retinal-specific phospholipid-transporting ATPase ABCA4 sequence variant G1961E (human)
def: "A retinal-specific phospholipid-transporting ATPase ABCA4 (human) that has a Glu residue at the position equivalent to Gly-1961 of the amino acid sequence represented by UniProtKB:P78363. UniProtKB:P78363, Gly-1961, CHEBI:29972." [PRO:DNx, Reactome:R-HSA-2466780]
comment: Category=organism-sequence.
synonym: "hABCA4/var:G1961E" EXACT PRO-short-label [PRO:DNx]
synonym: "ABCA4 G1961E" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-2466780]
synonym: "UniProtKB:P78363, Gly-1961, CHEBI:29972" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-2466780 "PR:000063254 located_in GO:0097381"
is_a: PR:P78363 ! retinal-specific phospholipid-transporting ATPase ABCA4 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens