[Term]
id: PR:000064550
name: retinal-specific phospholipid-transporting ATPase ABCA4 sequence variant A1028V (human)
def: "A retinal-specific phospholipid-transporting ATPase ABCA4 (human) that has a Val residue at the position equivalent to Ala-1028 of the amino acid sequence represented by UniProtKB:P78363. UniProtKB:P78363, Ala-1028, CHEBI:30015." [PRO:DNx, Reactome:R-HSA-2466850]
comment: Category=organism-sequence.
synonym: "hABCA4/var:A1028V" EXACT PRO-short-label [PRO:DNx]
synonym: "ABCA4 A1028V" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-2466850]
synonym: "UniProtKB:P78363, Ala-1028, CHEBI:30015" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-2466850 "PR:000064550 located_in GO:0097381"
is_a: PR:P78363 ! retinal-specific phospholipid-transporting ATPase ABCA4 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens