[Term]
id: PR:000061626
name: retinal-specific phospholipid-transporting ATPase ABCA4 sequence variant G863A (human)
def: "A retinal-specific phospholipid-transporting ATPase ABCA4 (human) that has an Ala residue at the position equivalent to Gly-863 of the amino acid sequence represented by UniProtKB:P78363. UniProtKB:P78363, Gly-863, CHEBI:46217." [PRO:DNx, Reactome:R-HSA-2466821]
comment: Category=organism-sequence.
synonym: "hABCA4/var:G863A" EXACT PRO-short-label [PRO:DNx]
synonym: "ABCA4 G863A" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-2466821]
synonym: "UniProtKB:P78363, Gly-863, CHEBI:46217" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-2466821 "PR:000061626 located_in GO:0097381"
is_a: PR:P78363 ! retinal-specific phospholipid-transporting ATPase ABCA4 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens