MRI1
methylthioribose-1-phosphate isomerase 1
Summary
This enzyme functions in the methionine salvage pathway by catalyzing the interconversion of methylthioribose-1-phosphate and methythioribulose-1-phosphate. Elevated expression of the encoded protein is associated with metastatic melanoma and this protein promotes melanoma cell invasion independent of its enzymatic activity. Mutations in this gene may be associated with vanishing white matter disease (VMWD). [provided by RefSeq, Jul 2016]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs79169978 | 19:13,875,421 | C/T | — | benign |
| rs372185077 | 19:13,875,434 | G/A | — | uncertain significance |
| rs137877795 | 19:13,875,437 | C/T | missense variant | — |
| rs780550007 | 19:13,875,479 | G/A | — | uncertain significance |
| rs755518072 | 19:13,875,706 | G/T | — | uncertain significance |
| rs775128784 | 19:13,875,764 | G/A | — | uncertain significance |
| rs1192355687 | 19:13,875,791 | G/T | — | uncertain significance |
| rs1974087380 | 19:13,875,838 | A/G | — | uncertain significance |
| rs191268733 | 19:13,875,842 | C/G | — | uncertain significance |
| rs1039842122 | 19:13,875,855 | C/T | — | likely benign |
| rs544766422 | 19:13,875,877 | C/T | — | uncertain significance |
| rs200063247 | 19:13,875,904 | G/A | — | likely benign |
| rs139570296 | 19:13,876,785 | A/G | missense variant | — |
| rs1568307354 | 19:13,876,835 | G/C | — | uncertain significance |
| rs770138569 | 19:13,876,849 | C/G | — | likely benign |
| rs146240389 | 19:13,876,856 | C/T | — | uncertain significance |
| rs140094235 | 19:13,876,863 | C/T | — | uncertain significance |
| rs143669512 | 19:13,876,870 | C/T | — | likely benign |
| rs549711082 | 19:13,876,878 | A/C | — | uncertain significance |
| rs139240039 | 19:13,876,922 | G/A | — | uncertain significance |
| rs768798274 | 19:13,876,929 | A/G | — | uncertain significance |
| rs373288448 | 19:13,879,434 | C/T | — | uncertain significance |
| rs151129587 | 19:13,879,449 | G/A | — | uncertain significance |
| rs141094096 | 19:13,879,456 | G/A | missense variant | uncertain significance |
| rs1275068211 | 19:13,879,491 | C/T | — | uncertain significance |
| rs750752654 | 19:13,879,509 | G/A | — | uncertain significance |
| rs35098252 | 19:13,879,530 | A/G | — | benign |
| rs2512619058 | 19:13,879,534 | C/T | — | uncertain significance |
| rs2512619152 | 19:13,879,549 | C/G | — | uncertain significance |
| rs117390228 | 19:13,879,561 | C/G | — | likely benign |
| rs202149144 | 19:13,879,682 | G/A | — | uncertain significance |
| rs1974209902 | 19:13,879,746 | T/G | — | uncertain significance |
| rs754730419 | 19:13,879,797 | T/A | — | uncertain significance |
| rs1192763361 | 19:13,879,811 | C/G | — | uncertain significance |
| rs1420052061 | 19:13,879,812 | G/A | — | uncertain significance |
| rs373564044 | 19:13,879,841 | G/T | — | uncertain significance |
| rs114891113 | 19:13,882,960 | C/T | — | benign |
| rs142055515 | 19:13,882,976 | G/A | — | uncertain significance |
| rs769217645 | 19:13,882,991 | G/A | — | uncertain significance |
| rs1042018789 | 19:13,882,994 | A/G | — | uncertain significance |
| rs139306023 | 19:13,883,034 | G/A | — | likely benign |
| rs149994742 | 19:13,883,049 | C/A | — | uncertain significance |
| rs754000725 | 19:13,883,078 | G/A | — | uncertain significance |
| rs779174440 | 19:13,883,085 | C/A | — | uncertain significance |
| rs1469071 | 19:13,883,099 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.