[Term]
id: PR:000062415
name: phospholipid-transporting ATPase ABCA3 sequence variant T1114M (human)
def: "A phospholipid-transporting ATPase ABCA3 (human) that has a Met residue at the position equivalent to Thr-1114 of the amino acid sequence represented by UniProtKB:Q99758-1. Example: UniProtKB:Q99758-1, Thr-1114, CHEBI:16044." [PRO:DNx, Reactome:R-HSA-5688390]
comment: Category=organism-sequence.
synonym: "hABCA3/var:T1114M" EXACT PRO-short-label [PRO:DNx]
synonym: "ABCA3 T1114M" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5688390]
synonym: "UniProtKB:Q99758, Thr-1114, CHEBI:16044" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q99758-1, Thr-1114, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5688390 "PR:000062415 located_in GO:0097232"
is_a: PR:Q99758 ! phospholipid-transporting ATPase ABCA3 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens