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 |