Table 3. Prediction of mt-tRNA variations from mtDB, mtSNP and MITOMAP using PON-mt-tRNA. The variants present in PON-mt-tRNA training and test data sets were excluded.
| Data set | Data description | Pathogenic | Likely pathogenic | Likely neutral | Neutral | Total |
|---|---|---|---|---|---|---|
| mtDB + mtSNPa | Non-disease-associated | 12 (5.79%) | 18 (8.70%) | 46 (22.22%) | 131 (63.29%) | 207 |
| MITOMAPb | Disease-associated | 28 (27.45%) | 21 (20.59%) | 20 (19.61%) | 33 (32.35%) | 102 |
| MITOMAP (filtered)a | Disease-associated | 27 (34.18%) | 19 (24.05%) | 16 (20.25%) | 17 (21.52%) | 79 |
| MITOMAP (filtered and confirmed)b | Disease-associated | 1 (25%) | 2 (50%) | 0 (0%) | 1 (25%) | 4 |
aVariations in MITOMAP not present in mtDB and mtSNP.
bVariations in MITOMAP with status ‘confirmed’.
The percentages are indicated in the parentheses.