[Term]
id: PR:000064230
name: ATP-binding cassette sub-family D member 1 sequence variant R617C (human)
def: "An ATP-binding cassette sub-family D member 1 (human) that has a Cys residue at the position equivalent to Arg-617 of the amino acid sequence represented by UniProtKB:P33897. UniProtKB:P33897, Arg-617, CHEBI:29950." [PRO:DNx, Reactome:R-HSA-5685069]
comment: Category=organism-sequence.
synonym: "hABCD1/var:R617C" EXACT PRO-short-label [PRO:DNx]
synonym: "ABCD1 R617C" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5685069]
synonym: "UniProtKB:P33897, Arg-617, CHEBI:29950" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5685069 "PR:000064230 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