[Term]
id: PR:000062078
name: phosphomannomutase 2 sequence variant R141H (human)
def: "A phosphomannomutase 2 (human) that has a His residue at the position equivalent to Arg-141 of the amino acid sequence represented by UniProtKB:O15305-1. Example: UniProtKB:O15305-1, Arg-141, CHEBI:29979." [PRO:DNx, Reactome:R-HSA-3781906]
comment: Category=organism-sequence.
synonym: "hPMM2/var:R141H" EXACT PRO-short-label [PRO:DNx]
synonym: "PMM2 R141H" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3781906]
synonym: "UniProtKB:O15305, Arg-141, CHEBI:29979" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:O15305-1, Arg-141, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-3781906 "PR:000062078 located_in GO:0005829"
is_a: PR:O15305 ! phosphomannomutase 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens