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Table 2 Possibly or probably damaging nonsynonymous mtDNA variants predicted by PolyPhen-2

From: Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus

Variant Gene Protein change Probability (%)1 mtDB hits2(N) Family history
m.13762 T > G MTND5 p.Ser476Ala 50.2 - DM, DEM, HL
m.9316 T > C MTCO3 p.Phe37Ser 74.7 1 DM
m.9903 T > C MTATP6 p.Phe233Leu 75.6 1 DM, T
m.14180 T > C MTND6 p.Tyr165Cys 90.5 18 DM, HL DEM
m.12613 G > A MTND5 p.Ala93Thr 97.2 4 DM
m.14198 G > A MTND6 p.Thr159Met 98.4 2 DM
m.13948 C > T MTND5 p.Pro538Ser 99.4 2 DM, DEM, T
  1. 1 Probability indicates the probability of the variant being damaging as estimated by PolyPhen-2. Probabilities >50 % are classified as possibly damaging and probabilities >90 % are classified as probably damaging.
  2. 2 Number of sequences harbouring the variant among 1865 complete mtDNA sequences and 839 coding region sequences at
  3. DM, diabetes mellitus; DEM, dementia; HL, hearing loss; T, tremor.