Table 3 of
Kumar, Mol Vis 2012; 18:2687-2699. Table 3 of
Kumar, Mol Vis 2012; 18:2687-2699.
Table 3. MtDNA variations identified in controls. Polyphen and SIFT were used to predict the pathogenicity of non-synonymous changes.
| S. No. | Nucleotide substitution | Codon Change | Amino acid change | Locus | Type of Mutation | PolyPhen/SIFT score | Pathogenecity | Reported/ Novel |
|---|---|---|---|---|---|---|---|---|
| 1. | G3591A | CTG>CTA | p.T95T | ND1 | SYN | NA | NA | mtDB |
| 2. | C3780T | GGC>GGT | p.G158G | ND1 | SYN | NA | NA | mitomap |
| 3. | G3918A | GAG>GAA | p.E204E | ND1 | SYN | NA | NA | mtDB |
| 4. | A3933G | TCA>TCG | p.S209S | ND1 | SYN | NA | NA | mitomap |
| 5. | A4093G | ACC>GCC | p.T263A | ND1 | NS | 0.476/0.38 | No | mtDB |
| 6. | A4793G | ATA>ATG | p.M108M | ND2 | SYN | NA | NA | mtDB |
| 7. | A5351G | CTA>CTG | p.L294L | ND2 | SYN | NA | NA | mtDB |
| 8. | G6305A | GGG>GGA | p.G134G | CO1 | SYN | NA | NA | mtDB |
| 9. | G6962A | CTG>CTA | p.T353T | CO1 | SYN | NA | NA | mtDB |
| 10. | T7738C | ACT>ACC | p.T51T | CO2 | SYN | NA | NA | mtDB |
| 11. | G7762A | CAG>CAA | p.Q59Q | CO2 | SYN | NA | NA | mtDB |
| 12. | T8143C | GCT>GCC | p.A186A | CO2 | SYN | NA | NA | mitomap |
| 13. | G8251A | GGG>GGA | p.G222G | CO2 | SYN | NA | NA | mtDB |
| 14. | T8503G | AAT>AAG | p.N46K | ATP8 | NS | 0.090/1.00 | No | mtDB |
| 15. | G8584A | GCA>ACA | p.A20T | ATP6 | NS | 0.362/0.19 | No | mtDB |
| 16. | C8650T | CTA>TTA | p.L42L | ATP6 | SYN | NA | NA | mtDB |
| 17. | A8718G | AAA>AAG | p.K64K | ATP6 | SYN | NA | NA | mtDB |
| 18. | G8886A | AAG>AAA | p.K120K | ATP6 | SYN | NA | NA | mitomap |
| 19. | G10310A | CTG>CTA | p.T84T | ND3 | SYN | NA | NA | mtDB |
| 20. | T10873C | CCT>CCC | p.P48P | ND4 | SYN | NA | NA | mtDB |
| 21. | A11467G | TTA>TTG | p.L236L | ND4 | SYN | NA | NA | mitomap |
| 22. | G12372A | CTG>CTA | p.T12T | ND5 | SYN | NA | NA | mtDB |
| 23. | A12381G | CTA>CTG | p.L15L | ND5 | SYN | NA | NA | mtDB |
| 24. | G12406A | GTT>ATT | p.V24I | ND5 | NS | 0.299/0.72 | No | mtDB |
| 25. | C12498T | TTC>TTT | p.F54F | ND5 | SYN | NA | NA | mitomap |
| 26. | G12561A | CAG>CAA | p.Q75Q | ND5 | SYN | NA | NA | mtDB |
| 27. | G13204A | GTC>ATC | p.V290I | ND5 | NS | 0.710/1.00 | No | mitomap |
| 28. | G15172A | GGG>GGA | p.G142G | CYB | SYN | NA | NA | mtDB |
| 29. | T15067C | TTT>TTC | p.F107F | CYB | SYN | NA | NA | mitomap |