METAP1D
methionyl aminopeptidase type 1D, mitochondrial
Summary
The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from many proteins, thus facilitating subsequent protein modification. In mitochondria, enzymes that catalyze this reaction are celled methionine aminopeptidases (MetAps, or MAPs; EC 3.4.11.18) (Serero et al., 2003 [PubMed 14532271]).[supplied by OMIM, Mar 2008]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1688418986 | 2:172,864,899 | A/G | — | uncertain significance |
| rs6704590 | 2:172,878,554 | C/G | regulatory region variant | — |
| rs62183808 | 2:172,880,075 | G/T | — | — |
| rs10201053 | 2:172,889,558 | A/G | intron variant | — |
| rs7606918 | 2:172,895,449 | A/G | intron variant | — |
| rs112432457 | 2:172,901,195 | A/G | intron variant | — |
| rs6725971 | 2:172,923,983 | C/G | — | — |
| rs781682409 | 2:172,926,313 | G/A | — | uncertain significance |
| rs375122171 | 2:172,926,325 | A/C | — | uncertain significance |
| rs368069459 | 2:172,926,336 | A/G | — | uncertain significance |
| rs374478594 | 2:172,928,457 | T/A | — | uncertain significance |
| rs745357105 | 2:172,928,464 | C/T | — | uncertain significance |
| rs146517576 | 2:172,928,514 | G/A | missense variant | — |
| rs754196894 | 2:172,928,533 | A/G | — | likely benign |
| rs749963076 | 2:172,928,553 | C/T | — | uncertain significance |
| rs900546688 | 2:172,930,396 | A/G | — | uncertain significance |
| rs767369311 | 2:172,930,404 | C/T | — | uncertain significance |
| rs372587392 | 2:172,930,432 | C/T | — | uncertain significance |
| rs747061170 | 2:172,930,455 | G/A | — | uncertain significance |
| rs141907264 | 2:172,930,465 | A/G | — | uncertain significance |
| rs746479147 | 2:172,930,994 | G/A | — | uncertain significance |
| rs138869820 | 2:172,931,008 | G/A | missense variant | — |
| rs772966640 | 2:172,935,770 | C/T | — | uncertain significance |
| rs1690583936 | 2:172,942,532 | A/G | — | uncertain significance |
| rs2545533426 | 2:172,942,564 | T/A | — | uncertain significance |
| rs2545538055 | 2:172,945,057 | T/G | — | uncertain significance |
| rs144482301 | 2:172,945,087 | A/C | — | uncertain significance |
| rs1385759597 | 2:172,945,115 | A/C | — | uncertain significance |
| rs139971195 | 2:172,945,116 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.