Table 1 Conservation analysis of private variants and contiguous amino acid residues
Mutation | m.4705T>C | m.5263C>T | m.14180T>C |
|---|---|---|---|
Locus | MT-ND2 | MT-ND2 | MT-ND6 |
AA change | p.M79T | p.A265V | p.Y165C |
Conservation (%) | |||
Eukaryotes | 25 (n = 161) | 48 (n = 161) | 36 (n = 124) |
Vertebrates | 3 (n = 126) | 57 (n = 126) | 54 (n = 83) |
Mammals | 41 (n = 95) | 75 (n = 95) | 26 (n = 43) |
Prediction | |||
Polyphen 2 | Benign | Benign | Probably damaging |
Provean | Deleterious | Neutral | Deleterious |
Contiguous amino acid conservation | |||
Interval (−10/+10) | 69-89 | 255-275 | 155-174 |
Local conservation (%) | 68 | 83 | 69 |
Global conservation (%) | 62 | 62 | 52 |
Nearest invariant position (−/+) | −1/+2 | −1/+1 | −1/+4 |