[Term]
id: PR:000060387
name: phospholipid-transporting ATPase ABCA3 sequence variant E690K (human)
def: "A phospholipid-transporting ATPase ABCA3 (human) that has a Lys residue at the position equivalent to Glu-690 of the amino acid sequence represented by UniProtKB:Q99758-1. Example: UniProtKB:Q99758-1, Glu-690, CHEBI:29967." [PRO:DNx, Reactome:R-HSA-5688389]
comment: Category=organism-sequence.
synonym: "hABCA3/var:E690K" EXACT PRO-short-label [PRO:DNx]
synonym: "ABCA3 E690K" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5688389]
synonym: "UniProtKB:Q99758, Glu-690, CHEBI:29967" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q99758-1, Glu-690, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5688389 "PR:000060387 located_in GO:0097232"
is_a: PR:Q99758 ! phospholipid-transporting ATPase ABCA3 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens