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 |