Table 3. Variants observed at the mtDNA tRNA genes of Ras/MAPK pathway syndromes patients.
| Mutation position | Sample ID1 | Nucleotide change | tRNA | Location in secondary structure | Hg | MITOMAP | Conservation2 |
| 4336 | #13, #14 | T-C | tRNA-Gln | Acceptor stem | H5a, U6d | ADPD/hearing loss & migraine (unclear) | 50%<x<90% |
| 7476 | #4* | C-T | tRNA-SerUCN | Anticodon stem | J2 | Not reported | 50%<x<90% |
| 7521 | #44, #45* | G-A | tRNA-Asp | Acceptor stem | L3′4′6, G4, M76 | Not reported | Different in human and mammalian consensus |
| 7561 | #39* | T-C | tRNA-Asp | Variable loop | - | Not reported | 90%<x<100% |
| 10463 | #5*, #6 | T-C | tRNA-Arg | Acceptor stem | T, J1c1b1a, P4a | Not reported | 50%<x<90% |
| 122853 | #45* | T-G | tRNA-LeuCUN | DHU loop | L2a5 | Not reported | 50%<x<90% |
| 12308 | #33*, #34; #35, #36, #37*, #38*, #39*, #40 | A-G | tRNA-LeuCUN | Variable loop | U | CPEO/stroke/CM/renal & prostate cancer risk/altered brain pH | 100% |
| 15904 | #17, #18, #19 | C-T | tRNA-Thr | DHU loop | HV0a | Not reported | Natural variable site |
| 15927 | #43 | G-A | tRNA-Thr | Anticodon stem | X2b, B5b, U6a5, L0f2b, G3b, HV1a1 | Multiple sclerosis/DEAF1555 increased penetrance (P.M/possible helper mutation) | Different in human and mammalian consensus |
| 15928 | #5*, #6 | G-A | tRNA-Thr | Anticodon stem | T, L3x2b, C7b, Z3a, M25, M35b | Multiple sclerosis (P.M) | 50%<x<90% |
NOTE.
1
Starst identified samples carrying nDNA mutations;
2
According to Helm et al. [57];
3
Transversion 12285T>G is not actually a private variant if we consider that a new branch, L2a5, has been defined in the present article based on this entire genome and another one previously described in the literature under the GenBank entry HM596745.