Table 4 Feature values for rare missense mutations without clear evidences of pathogenicity classified as damaging mutations by Mitoclass.1

m.4633C > G

p.A55G/p.MT-ND2/TM

2.33

0

Ho

4

m.4648 T > C

p.F60S/p.MT-ND2/TM

0.02

0

Ho

4

m.5244G > A

p.G259S/p.MT-ND2/TM

1.01

0

He

4

m.6742 T > C

p.I280T/p.MT-CO1/TM

0.02

0

He

3

m.8528 T > C

p.W55R/p.MT-ATP8/M

0.04

0

He

4

m.8795A > G

p.H90R/p.MT-ATP6/TM

0

0

He

4

m.9972A > C

p.I256L/p.MT-CO3/IM

0.97

1

He

1

m.10543A > G

p.H25R/p.MT-ND4L/TM

2.57

0

He

4

m.10591 T > G

p.F41C/p.MT-ND4L/TM

0.02

0

He

3

m.12848C > T

p.A171V/p.MT-ND5/TM

0.16

0

He

3

m.13051G > A

p.G239S/p.MT-ND5/TM

0.02

0

Ho

4

m.13511A > T

p.K392M/p.MT-ND5/TM

0,02

0

He

4

m.13849A > C

p.N505H/p.MT-ND5/TM

0.27

0

Ho

2

m.14430A > G

p.W82R/p.MT-ND6/M

0.19

0

Ho

3

m.14498 T > C

p.Y59C/p.MT-ND6/TM

0.04

0

He

3

m.15243G > A

p.G166E/p.MT-CYB/IM

0

0

He

4

Mean

0.48

Mean of neutral variants from validation dataset

7.90