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Table 3 List of novel, putatively functional and heterozygous variants in mitochondrial genes

From: Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

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

  1. Variants with PhyloP score > 2 are listed.
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Genome Biology

ISSN: 1474-760X

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