MPI
mannose phosphate isomerase
Summary
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]
Known Variants383 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9673065 | 15:75,180,892 | T/A | — | — |
| rs145533697 | 15:75,182,410 | C/T | — | uncertain significance |
| rs528828174 | 15:75,182,415 | A/G | missense variant | pathogenic |
| rs149477499 | 15:75,182,420 | C/A | — | likely benign |
| rs770421382 | 15:75,182,421 | G/A | — | uncertain significance |
| rs143982014 | 15:75,182,424 | C/T | — | conflicting classifications of pathogenicity |
| rs1452559752 | 15:75,182,427 | C/T | — | pathogenic |
| rs759385120 | 15:75,182,428 | G/T | — | uncertain significance |
| rs2141194926 | 15:75,182,431 | G/T | — | likely pathogenic |
| rs2505809803 | 15:75,182,432 | T/C | — | likely pathogenic |
| rs2505809814 | 15:75,182,437 | C/T | — | likely benign |
| rs765308824 | 15:75,182,438 | A/G | — | likely benign |
| rs763004015 | 15:75,182,439 | T/C | — | likely benign |
| rs1182245062 | 15:75,182,441 | G/A | — | likely benign |
| rs568622423 | 15:75,182,443 | C/T | — | likely benign |
| rs2505809837 | 15:75,182,445 | G/C | — | likely benign |
| rs751527702 | 15:75,182,446 | G/T | — | likely benign |
| rs1420681922 | 15:75,182,447 | G/C | — | likely benign |
| rs757532607 | 15:75,182,448 | G/T | — | likely benign |
| rs62619820 | 15:75,182,524 | G/A | — | likely benign |
| rs75555960 | 15:75,182,831 | G/A | — | likely benign |
| rs1000475684 | 15:75,182,855 | T/C | — | likely benign |
| rs2505811090 | 15:75,182,856 | C/G | — | likely benign |
| rs539654088 | 15:75,182,861 | C/T | — | likely benign |
| rs2505811121 | 15:75,182,864 | C/G | — | likely benign |
| rs1435343419 | 15:75,182,866 | A/G | — | likely pathogenic |
| rs754249618 | 15:75,182,869 | A/G | — | likely benign |
| rs193018589 | 15:75,182,878 | T/G | — | likely benign |
| rs2064708840 | 15:75,182,884 | T/G | — | uncertain significance |
| rs2064708895 | 15:75,182,887 | G/C | — | likely benign |
| rs1382095161 | 15:75,182,893 | G/T | — | uncertain significance |
| rs2505811178 | 15:75,182,894 | C/T | — | pathogenic |
| rs371649838 | 15:75,182,896 | G/C | — | uncertain significance |
| rs779832985 | 15:75,182,911 | G/A | — | likely benign |
| rs376746368 | 15:75,182,912 | A/G | — | uncertain significance |
| rs140124850 | 15:75,182,920 | C/T | — | likely benign |
| rs1596440826 | 15:75,182,929 | A/G | — | likely benign |
| rs760006403 | 15:75,182,941 | G/A | — | likely benign |
| rs765537697 | 15:75,182,942 | T/C | — | likely benign |
| rs1596440893 | 15:75,182,946 | C/T | — | uncertain significance |
| rs919325069 | 15:75,182,947 | C/T | — | likely benign |
| rs1057516466 | 15:75,182,971 | — | — | pathogenic |
| rs779821212 | 15:75,182,972 | G/A | — | uncertain significance |
| rs1280433010 | 15:75,182,974 | A/G | — | likely benign |
| rs1316039664 | 15:75,182,975 | G/C | — | uncertain significance |
| rs754600720 | 15:75,182,977 | G/A | — | likely benign |
| rs2141196159 | 15:75,182,980 | C/T | — | likely benign |
| rs778577329 | 15:75,182,983 | G/A | — | conflicting classifications of pathogenicity |
| rs2141196187 | 15:75,182,989 | T/C | — | likely benign |
| rs1179088321 | 15:75,182,991 | C/G | — | uncertain significance |
| rs2064711934 | 15:75,182,992 | A/G | — | likely benign |
| rs2505811612 | 15:75,182,996 | G/A | — | likely pathogenic |
| rs1596441025 | 15:75,182,997 | T/C | — | likely pathogenic |
| rs2505811631 | 15:75,183,002 | C/T | — | likely benign |
| rs2064712214 | 15:75,183,005 | G/A | — | likely benign |
| rs369867765 | 15:75,183,007 | G/T | — | likely benign |
| rs2141196237 | 15:75,183,008 | C/T | — | likely benign |
| rs373207227 | 15:75,183,010 | G/A | — | likely benign |
| rs138182675 | 15:75,183,011 | T/A | — | likely benign |
| rs186045258 | 15:75,183,013 | T/A | — | likely benign |
| rs1236115296 | 15:75,183,014 | T/G | — | likely benign |
| rs190812626 | 15:75,183,015 | T/A | — | likely benign |
| rs762413273 | 15:75,183,707 | C/T | — | likely benign |
| rs768029221 | 15:75,183,709 | T/C | — | conflicting classifications of pathogenicity |
| rs2505813385 | 15:75,183,710 | G/A | — | likely benign |
| rs2141197441 | 15:75,183,711 | T/C | — | likely benign |
| rs1035189510 | 15:75,183,715 | T/C | — | likely benign |
| rs1057516573 | 15:75,183,719 | G/C | — | pathogenic |
| rs926396606 | 15:75,183,720 | T/C | — | likely benign |
| rs1406722622 | 15:75,183,725 | G/A | — | pathogenic |
| rs2141197487 | 15:75,183,731 | G/A | — | likely benign |
| rs2505813487 | 15:75,183,734 | T/C | — | likely benign |
| rs763885017 | 15:75,183,737 | C/T | — | likely benign |
| rs751320033 | 15:75,183,738 | C/T | — | uncertain significance |
| rs757168691 | 15:75,183,741 | C/T | — | pathogenic |
| rs200452019 | 15:75,183,742 | G/A | — | uncertain significance |
| rs1225376562 | 15:75,183,744 | G/A | — | likely pathogenic |
| rs750510350 | 15:75,183,745 | G/T | — | uncertain significance |
| rs2505813545 | 15:75,183,746 | G/A | — | likely benign |
| rs2064724687 | 15:75,183,752 | C/T | — | likely benign |
| rs2505813565 | 15:75,183,755 | G/A | — | likely benign |
| rs1468326053 | 15:75,183,765 | A/C | — | uncertain significance |
| rs768931867 | 15:75,183,769 | G/A | — | uncertain significance |
| rs779450524 | 15:75,183,779 | G/A | — | likely benign |
| rs2505813661 | 15:75,183,782 | G/A | — | likely benign |
| rs146699267 | 15:75,183,789 | A/C | — | likely benign |
| rs772501173 | 15:75,183,791 | C/T | — | likely benign |
| rs2505813674 | 15:75,183,797 | G/A | — | pathogenic |
| rs2505813682 | 15:75,183,800 | T/C | — | likely benign |
| rs2505813703 | 15:75,183,806 | G/A | — | likely benign |
| rs1444877183 | 15:75,183,813 | G/A | — | uncertain significance |
| rs1360638113 | 15:75,183,819 | T/C | — | likely benign |
| rs2505813741 | 15:75,183,821 | G/A | — | likely benign |
| rs146863816 | 15:75,183,824 | C/A | — | likely benign |
| rs978284448 | 15:75,183,826 | C/G | — | pathogenic |
| rs2141197661 | 15:75,183,833 | C/T | — | likely benign |
| rs529795568 | 15:75,183,839 | C/T | — | likely benign |
| rs2505813810 | 15:75,183,844 | T/G | — | uncertain significance |
| rs2141197716 | 15:75,183,857 | G/C | — | likely benign |
| rs1001297444 | 15:75,183,860 | C/T | — | likely benign |
Showing 100 of 383 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.