Variant | Gene | Amino acid change | PolyPhen (%)1 | SIFT BLink2 | PMut prediction3 | PMut reliability score4 | Database hits5 | Source |
---|---|---|---|---|---|---|---|---|
8923A > G | MTATP6 | p.T133A | 1.1 | 0 | Pathogenic | 4 | 3 | Finland, Japan |
9480T > C | MTCO3 | p.F92L | 38.7 | 0.51 | Pathogenic | 6 | 3 | Finland |
14564A > G | MTND6 | p.V37A | 0 | 1 | Neutral | 0 | 2 | Finland, China6 |
15725C > T | MTCYB | p.L327F | 0.1 | 0.03 | Pathogenic | 4 | 3 | USA, Native American, Kazakhstan |
11392A > GNovel | MTND4 | syn | n.a. | n.a. | n.a. | n.a. | 0 | n.a. |