[Term]
id: PR:000064375
name: phosphatidylcholine translocator ABCB4 sequence variant R590Q (human)
def: "A phosphatidylcholine translocator ABCB4 (human) that has a Gln residue at the position equivalent to Arg-590 of the amino acid sequence represented by UniProtKB:P21439-1. Example: UniProtKB:P21439-1, Arg-590, CHEBI:30011." [PRO:DNx, Reactome:R-HSA-5678907]
comment: Category=organism-sequence.
synonym: "hABCB4/var:R590Q" EXACT PRO-short-label [PRO:DNx]
synonym: "ABCB4 R590Q" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5678907]
synonym: "UniProtKB:P21439, Arg-590, CHEBI:30011" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P21439-1, Arg-590, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5678907 "PR:000064375 located_in GO:0005886"
is_a: PR:P21439 ! phosphatidylcholine translocator ABCB4 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens