[Term]
id: PR:000064371
name: phospholipid-transporting ATPase ABCA3 sequence variant D253H (human)
def: "A phospholipid-transporting ATPase ABCA3 (human) that has a His residue at the position equivalent to Asp-253 of the amino acid sequence represented by UniProtKB:Q99758-1. Example: UniProtKB:Q99758-1, Asp-253, CHEBI:29979." [PRO:DNx, Reactome:R-HSA-5683697]
comment: Category=organism-sequence.
synonym: "hABCA3/var:D253H" EXACT PRO-short-label [PRO:DNx]
synonym: "ABCA3 D253H" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5683697]
synonym: "UniProtKB:Q99758, Asp-253, CHEBI:29979" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q99758-1, Asp-253, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5683697 "PR:000064371 located_in GO:0097232"
is_a: PR:Q99758 ! phospholipid-transporting ATPase ABCA3 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens