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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.