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Table 5 Percentage of confirmed and predicted pathologic mutations per polypeptide/complex (A) or domain (B)

From: Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides

A

Complex

Polypeptide

AA

%

MUT

%

MUT

%

Confirmed

Predicted

CI

 

2214

55.8

36

63.2

7190

47.8

p.MT-ND1

318

8.4

15

26.3

1300

8.6

p.MT-ND2

347

9.2

1

1.8

1032

6.9

p.MT-ND3

115

3.0

2

3.5

420

2.8

p.MT-ND4

459

12.1

3

5.3

1689

11.2

p.MT-ND4L

98

2.6

1

1.8

377

2.5

p.MT-ND5

603

15.9

7

12.3

2008

13.3

p.MT-ND6

174

4.6

7

12.3

364

2.4

CIII

 

380

10.0

2

3.5

1721

11.4

p.MT-CYB

380

10.0

2

3.5

1721

11.4

CIV

 

1001

26.4

4

7.0

5146

34.2

p.MT-CO1

513

13.5

1

1.8

2803

18.6

p.MT-CO2

227

6.0

2

3.5

1021

6.8

p.MT-CO3

261

6.9

1

1.8

1322

8.8

CV

 

294

7.8

15

26.3

992

6.6

p.MT-ATP6

226

6.0

15

26.3

876

5.8

p.MT-ATP8

68

1.8

0

0

116

0.8

B

Domain

AA

%

MUT

%

MUT

%

  

Confirmed

Predicted

3889

100

57

100

15049

100

IM

747

19.2

4

7.0

2883

19.1

TM

2376

61.1

42

73.7

9294

61.8

M

766

19.7

11

19.3

2872

19.1

  1. Complex, polypeptide, AA, %, MUT, %, confirmed, predicted, IM, TM and M refer to OXPHOS complexes, mtDNA-encoded polypeptides, number of amino acids and its percentage in a particular polypeptide or domain, number of damaging mutations and its percentage in a particular polypeptide or domain, confirmed damaging mutations, predicted damaging mutations by Mitoclass.1, intermembrane, transmembrane and matrix domains, respectively
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BMC Bioinformatics

ISSN: 1471-2105

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