[Term]
id: PR:000064542
name: phospholipid-transporting ATPase ABCA3 sequence variant N568D (human)
def: "A phospholipid-transporting ATPase ABCA3 (human) that has an Asp residue at the position equivalent to Asn-568 of the amino acid sequence represented by UniProtKB:Q99758-1. Example: UniProtKB:Q99758-1, Asn-568, CHEBI:29958." [PRO:DNx, Reactome:R-HSA-5688388]
comment: Category=organism-sequence.
synonym: "hABCA3/var:N568D" EXACT PRO-short-label [PRO:DNx]
synonym: "ABCA3 N568D" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5688388]
synonym: "UniProtKB:Q99758, Asn-568, CHEBI:29958" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q99758-1, Asn-568, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5688388 "PR:000064542 located_in GO:0097232"
is_a: PR:Q99758 ! phospholipid-transporting ATPase ABCA3 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens