Variant | Gene | Amino acid change | PolyPhen (%)1 | SIFT Blink2 | PMut prediction3 | PMut reliability score4 | Database hits5 | Source |
---|---|---|---|---|---|---|---|---|
m.9055G > A | MTATP6 | p.A177T | 84.5 | 0.01 | Pathogenic | 7 | 446 | Various |
m.9903T > C | MTCO3 | p.F233L | 75.6 | 0 | Pathogenic | 7 | 4 | Africa, Finland, Italy6 |
m.12613G > A | MTND5 | p.A93T | 97.2 | 0 | Pathogenic | 2 | 5 | Finland, Russia/Tatar |
m.14198G > A | MTND6 | p.T159M | 99.9 | 0 | Pathogenic | 0 | 5 | Finland, Japan, Israel, Spain7 |
m.15218A > G | MTCYB | p.T158A | 89.3 | 0.04 | Pathogenic | 2 | 164 | Various |