[Term]
id: PR:000063329
name: vitamin D 25-hydroxylase sequence variant L99P (human)
def: "A vitamin D 25-hydroxylase (human) that has a Pro residue at the position equivalent to Leu-99 of the amino acid sequence represented by UniProtKB:Q6VVX0. UniProtKB:Q6VVX0, Leu-99, CHEBI:50342." [PRO:DNx, Reactome:R-HSA-5602112]
comment: Category=organism-sequence.
synonym: "hCYP2R1/var:L99P" EXACT PRO-short-label [PRO:DNx]
synonym: "CYP2R1 L99P" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5602112]
synonym: "UniProtKB:Q6VVX0, Leu-99, CHEBI:50342" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5602112 "PR:000063329 located_in GO:0005789"
is_a: PR:Q6VVX0 ! vitamin D 25-hydroxylase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens