[Term]
id: PR:000062083
name: phosphomannomutase 2 sequence variant G117R (human)
def: "A phosphomannomutase 2 (human) that has an Arg residue at the position equivalent to Gly-117 of the amino acid sequence represented by UniProtKB:O15305-1. Example: UniProtKB:O15305-1, Gly-117, CHEBI:29952." [PRO:DNx, Reactome:R-HSA-3781863]
comment: Category=organism-sequence.
synonym: "hPMM2/var:G117R" EXACT PRO-short-label [PRO:DNx]
synonym: "PMM2 G117R" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3781863]
synonym: "UniProtKB:O15305, Gly-117, CHEBI:29952" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:O15305-1, Gly-117, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-3781863 "PR:000062083 located_in GO:0005829"
is_a: PR:O15305 ! phosphomannomutase 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens