[Term]
id: PR:000062422
name: steroid 21-hydroxylase sequence variant E380D (human)
def: "A steroid 21-hydroxylase (human) that has an Asp residue at the position equivalent to Glu-380 of the amino acid sequence represented by UniProtKB:P08686-1. Example: UniProtKB:P08686-1, Glu-380, CHEBI:29958." [PRO:DNx, Reactome:R-HSA-5601934]
comment: Category=organism-sequence.
synonym: "hCYP21A2/var:E380D" EXACT PRO-short-label [PRO:DNx]
synonym: "CYP21A2 E380D" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5601934]
synonym: "UniProtKB:P08686, Glu-380, CHEBI:29958" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P08686-1, Glu-380, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5601934 "PR:000062422 located_in GO:0005789"
is_a: PR:P08686 ! steroid 21-hydroxylase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens