[Term]
id: PR:000064207
name: ATP-binding cassette sub-family D member 1 sequence variant G277R (human)
def: "An ATP-binding cassette sub-family D member 1 (human) that has an Arg residue at the position equivalent to Gly-277 of the amino acid sequence represented by UniProtKB:P33897. UniProtKB:P33897, Gly-277, CHEBI:29952." [PRO:DNx, Reactome:R-HSA-5685058]
comment: Category=organism-sequence.
synonym: "hABCD1/var:G277R" EXACT PRO-short-label [PRO:DNx]
synonym: "ABCD1 G277R" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5685058]
synonym: "UniProtKB:P33897, Gly-277, CHEBI:29952" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5685058 "PR:000064207 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