[Term]
id: PR:000064580
name: mannose-6-phosphate isomerase sequence variant R219Q (human)
def: "A mannose-6-phosphate isomerase (human) that has a Gln residue at the position equivalent to Arg-219 of the amino acid sequence represented by UniProtKB:P34949-1. Example: UniProtKB:P34949-1, Arg-219, CHEBI:30011." [PRO:DNx, Reactome:R-HSA-3781848]
comment: Category=organism-sequence.
synonym: "hMPI/var:R219Q" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P34949, Arg-219, CHEBI:30011" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P34949-1, Arg-219, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
synonym: "MPI R219Q" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3781848]
xref: Reactome:R-HSA-3781848 "PR:000064580 located_in GO:0005829"
is_a: PR:P34949 ! mannose-6-phosphate isomerase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens