Table 3

List of novel, putatively functional and heterozygous variants in mitochondrial genes

Chromosome

Position

Reference allele

Variant allele

Variant calling/coverage

Gene

Amino acid change

PhyloP score

Inheritance


7

30615756

G

C

36/69

GARS

Asp256His

6.494

Paternally inherited

10

104476790

T

T

14/30

SFXN2

Leu73Pro

4.906

Maternally inherited

7

100670236

C

C

20/51

FIS1

Ala90Pro

3.824

Maternally inherited

11

47620527

A

A

3/8

MTCH2

Tyr23His

3.680

Not confirmed in Sanger sequencing

1

10286026

C

G

22/46

KIF1B

Ile732Met

3.092

Maternally inherited


Variants with PhyloP score > 2 are listed.

Takata et al. Genome Biology 2011 12:R92   doi:10.1186/gb-2011-12-9-r92

Open Data