[Term]
id: PR:000063723
name: bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase sequence variant M171V (human)
def: "A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) that has a Val residue at the position equivalent to Met-171 of the amino acid sequence represented by UniProtKB:Q9Y223-1. Example: UniProtKB:Q9Y223-1, Met-171, CHEBI:30015." [PRO:DNx, Reactome:R-HSA-4088351]
comment: Category=organism-sequence.
synonym: "hGNE/var:M171V" EXACT PRO-short-label [PRO:DNx]
synonym: "GNE M171V" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-4088351]
synonym: "UniProtKB:Q9Y223, Met-171, CHEBI:30015" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q9Y223-1, Met-171, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-4088351 "PR:000063723 located_in GO:0005829"
is_a: PR:Q9Y223 ! bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens