[Term]
id: PR:000064326
name: mannose-6-phosphate isomerase sequence variant R295H (human)
def: "A mannose-6-phosphate isomerase (human) that has a His residue at the position equivalent to Arg-295 of the amino acid sequence represented by UniProtKB:P34949-1. Example: UniProtKB:P34949-1, Arg-295, CHEBI:29979." [PRO:DNx, Reactome:R-HSA-3781884]
comment: Category=organism-sequence.
synonym: "hMPI/var:R295H" EXACT PRO-short-label [PRO:DNx]
synonym: "MPI R295H" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3781884]
synonym: "UniProtKB:P34949, Arg-295, CHEBI:29979" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P34949-1, Arg-295, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-3781884 "PR:000064326 located_in GO:0005829"
is_a: PR:P34949 ! mannose-6-phosphate isomerase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens