Table 4.
Feature values for rare missense mutations without clear evidences of pathogenicity classified as damaging mutations by Mitoclass.1
| rCRS Mut | AA subs/PP/Dom | F1 | F2 | F3 | Freq | Ho/He | DamPre |
|---|---|---|---|---|---|---|---|
| m.4633C > G | p.A55G/p.MT-ND2/TM | 127.5 | 2.33 | 12.66 | 0 | Ho | 4 |
| m.4648 T > C | p.F60S/p.MT-ND2/TM | 113.7 | 0.02 | 4.22 | 0 | Ho | 4 |
| m.5244G > A | p.G259S/p.MT-ND2/TM | 138.9 | 1.01 | 23.65 | 0 | He | 4 |
| m.6742 T > C | p.I280T/p.MT-CO1/TM | 99.7 | 0.02 | 9.22 | 0 | He | 3 |
| m.8528 T > C | p.W55R/p.MT-ATP8/M | 102.6 | 0.04 | 14.99 | 0 | He | 4 |
| m.8795A > G | p.H90R/p.MT-ATP6/TM | 73.8 | 0 | 0.66 | 0 | He | 4 |
| m.9972A > C | p.I256L/p.MT-CO3/IM | 112.3 | 0.97 | 25.85 | 1 | He | 1 |
| m.10543A > G | p.H25R/p.MT-ND4L/TM | 150.5 | 2.57 | 0.66 | 0 | He | 4 |
| m.10591 T > G | p.F41C/p.MT-ND4L/TM | 134.9 | 0.02 | 1.08 | 0 | He | 3 |
| m.12848C > T | p.A171V/p.MT-ND5/TM | 164.3 | 0.16 | 8.93 | 0 | He | 3 |
| m.13051G > A | p.G239S/p.MT-ND5/TM | 163.9 | 0.02 | 23.65 | 0 | Ho | 4 |
| m.13511A > T | p.K392M/p.MT-ND5/TM | 98.9 | 0,02 | 3.24 | 0 | He | 4 |
| m.13849A > C | p.N505H/p.MT-ND5/TM | 61.8 | 0.27 | 5.24 | 0 | Ho | 2 |
| m.14430A > G | p.W82R/p.MT-ND6/M | 99.2 | 0.19 | 14.99 | 0 | Ho | 3 |
| m.14498 T > C | p.Y59C/p.MT-ND6/TM | 143.9 | 0.04 | 2.97 | 0 | He | 3 |
| m.15243G > A | p.G166E/p.MT-CYB/IM | 115.6 | 0 | 11.92 | 0 | He | 4 |
| Mean | 118.8 | 0.48 | 10.25 | ||||
| Mean of neutral variants from validation dataset | 80.1 | 7.90 | 12.70 |
rCRS Mut, AA subs, PP, Dom, F1, F2, F3, Freq, Ho/He and DamPre code for position of the mutation according to the revised Cambridge Reference Sequence, amino acid substitution, polypeptide, domain, Feature 1–3 scores, frequency, Homoplasmy/Heteroplasmy, and number of predictors that consider damaging this amino acid substitution, respectively