[Term]
id: PR:000064607
name: ATP-binding cassette sub-family D member 1 sequence variant S606L (human)
def: "An ATP-binding cassette sub-family D member 1 (human) that has a Leu residue at the position equivalent to Ser-606 of the amino acid sequence represented by UniProtKB:P33897. UniProtKB:P33897, Ser-606, CHEBI:30006." [PRO:DNx, Reactome:R-HSA-5685104]
comment: Category=organism-sequence.
synonym: "hABCD1/var:S606L" EXACT PRO-short-label [PRO:DNx]
synonym: "ABCD1 S606L" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5685104]
synonym: "UniProtKB:P33897, Ser-606, CHEBI:30006" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5685104 "PR:000064607 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