Table 1 of Bi, Mol Vis 2012; 18:3087-3094.

Table 1. The nonsynonymous and tRNA private variants in complete mtDNA sequences with m.3635G>A.

Samplea Private variant (amino acid change) Gene Reported (population context)b Reported (disease context)b Haplogroup-specific variantc Variant frequencyd Conservation Index (CI)e Pathogenic scoref
Allg m.3635G>A (p.S110N) MT-ND1 No Yes No 4/15859 1 0.797
Le329, Le337 m.5301A>G (p.I278V) MT-ND2 Yes Yes Yes (M6, D5, H1e1a1) 125/15859 0.75 0.311
  m.14063T>C (p.I576T) MT-ND5 Yes Yes No 12/15859 0.25 0.582
  m.12811T>C (p.Y159H) MT-ND5 Yes Yes Yes (H3h, A2h1, M7b1’2’4–8) 124/15859 0.58 0.587
  m.15237T>C (p.I164T) MT-CYB Yes No No 2/15859 1 0.508
Le569 m.5773G>A MT-TC Yes Yes Yes (L0d3, A5a1a1, M13a, M24, M39a, L3b, D4i1, J1c1b1, H4a1b, K1a2a, C1c1b, H4a1a3) 220/15859 0.25  
EU807741.1 m.8551T>C (p.F9L) MT-ATP6 Yes Yes No 10/15859 1 0.745
FJ969382.1 m.7868C>T (p.L95F) MT-CO2 Yes Yes No 12/15859 0.15 0.539
  m.9071C>T (p.S182L) MT-ATP6 Yes Yes Yes (H16c) 5/15859 0.65 0.223
  m.12358A>G (p.T8A) MT-ND5 Yes Yes Yes (B4e, P4a, N1a1b, M7d, N9a, U5a1b1d, M12a, M27, D4b2b2, D4j1a) 216/15859 0.77 0.265
FJ969383.1 m.3421G>A (p.V39I) MT-ND1 Yes Yes Yes (D4n, HV1a3, W3a1a1, H81a) 32/15859 0.37 0.413