[Term]
id: PR:000061639
name: phospholipid-transporting ATPase ABCA3 sequence variant L326P (human)
def: "A phospholipid-transporting ATPase ABCA3 (human) that has a Pro residue at the position equivalent to Leu-326 of the amino acid sequence represented by UniProtKB:Q99758-1. Example: UniProtKB:Q99758-1, Leu-326, CHEBI:50342." [PRO:DNx, Reactome:R-HSA-5683666]
comment: Category=organism-sequence.
synonym: "hABCA3/var:L326P" EXACT PRO-short-label [PRO:DNx]
synonym: "ABCA3 L326P" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5683666]
synonym: "UniProtKB:Q99758, Leu-326, CHEBI:50342" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q99758-1, Leu-326, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5683666 "PR:000061639 located_in GO:0097232"
is_a: PR:Q99758 ! phospholipid-transporting ATPase ABCA3 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens