[Term]
id: PR:000064025
name: steroid 17-alpha-hydroxylase/17,20 lyase sequence variant R347H (human)
def: "A steroid 17-alpha-hydroxylase/17,20 lyase (human) that has a His residue at the position equivalent to Arg-347 of the amino acid sequence represented by UniProtKB:P05093. UniProtKB:P05093, Arg-347, CHEBI:29979." [PRO:DNx, Reactome:R-HSA-5601786]
comment: Category=organism-sequence.
synonym: "hCYP17A1/var:R347H" EXACT PRO-short-label [PRO:DNx]
synonym: "CYP17A1 R347H" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5601786]
synonym: "UniProtKB:P05093, Arg-347, CHEBI:29979" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5601786 "PR:000064025 located_in GO:0005789"
is_a: PR:P05093 ! steroid 17-alpha-hydroxylase/17,20 lyase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens