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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 http://www.mtdb.igp.uu.se/
  3. DM, diabetes mellitus; DEM, dementia; HL, hearing loss; T, tremor.