[Term]
id: PR:000061323
name: ATP-binding cassette sub-family D member 1 sequence variant R554H (human)
def: "An ATP-binding cassette sub-family D member 1 (human) that has a His residue at the position equivalent to Arg-554 of the amino acid sequence represented by UniProtKB:P33897. UniProtKB:P33897, Arg-554, CHEBI:29979." [PRO:DNx, Reactome:R-HSA-5685072]
comment: Category=organism-sequence.
synonym: "hABCD1/var:R554H" EXACT PRO-short-label [PRO:DNx]
synonym: "ABCD1 R554H" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5685072]
synonym: "UniProtKB:P33897, Arg-554, CHEBI:29979" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5685072 "PR:000061323 located_in GO:0005778"
is_a: PR:P33897 ! ATP-binding cassette sub-family D member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens