MPI Chromosome 15
Mannose phosphate isomerase
Upload your DNA to see your personal genotypes for variants in MPI.
What This Gene Does
Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Associated Conditions (2)
MPI-congenital disorder of glycosylation
MPI-related disorder
Key Variants
RS1057516550
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-related disorder, MPI-congenital disorder of glycosylation
Health Risk
RS1268293635
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS139228075
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS139866632
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS143982014
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-related disorder, MPI-congenital disorder of glycosylation
Health Risk
RS144118442
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS150217523
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS1595822583
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS199719453
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS199972529
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS200903491
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS2064752971
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
All Variants (132)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057516550 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-related disorder, MPI-congenital disorder of glycosylation |
| RS1268293635 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS139228075 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS139866632 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS143982014 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-related disorder, MPI-congenital disorder of glycosylation |
| RS144118442 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS150217523 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1595822583 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS199719453 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS199972529 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS200903491 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2064752971 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2064840907 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2064843052 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS377419930 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS528828174 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS564765063 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS748090636 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS752948071 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS766458792 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS768029221 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS773678732 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS778577329 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS794727716 | Health Risk | Conflicting classifications of pathogenicity | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS104894495 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1057516466 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1057516573 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1057517115 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1225376562 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1237538373 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1394866894 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1435343419 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1555478015 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1555478118 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1555478333 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1555478582 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1555478606 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1555479227 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1555479341 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1555479441 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1567269757 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1596441025 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2064727120 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2064828055 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2064832233 | Health Risk | Likely pathogenic | — |
| RS2141194911 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141194926 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141200280 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141206921 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141208628 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |