[Term]
id: PR:000061834
name: ATP-binding cassette sub-family G member 5 sequence variant R389H (human)
def: "An ATP-binding cassette sub-family G member 5 (human) that has a His residue at the position equivalent to Arg-389 of the amino acid sequence represented by UniProtKB:Q9H222-1. Example: UniProtKB:Q9H222-1, Arg-389, CHEBI:29979." [PRO:DNx, Reactome:R-HSA-5679176]
comment: Category=organism-sequence.
synonym: "hABCG5/var:R389H" EXACT PRO-short-label [PRO:DNx]
synonym: "ABCG5 R389H" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5679176]
synonym: "UniProtKB:Q9H222, Arg-389, CHEBI:29979" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q9H222-1, Arg-389, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5679176 "PR:000061834 located_in GO:0005886"
is_a: PR:Q9H222 ! ATP-binding cassette sub-family G member 5 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens