Table 2 of
Kumar, Mol Vis 2013; 19:220-230. Table 2 of
Kumar, Mol Vis 2013; 19:220-230.
Table 2. Mitochondrial DNA variations in controls.
| Nucleotide change | Locus | Codon change | Change in protein | Type of mutation | Polyphen/ SIFT score | Pathogenic (Yes/No) | Frequency of variation |
|---|---|---|---|---|---|---|---|
| 3591 G>A | ND1 | CTG>CTA | p.T95T | SYN | NA | NA | 1/20 |
| 3915 G>A | ND1 | GGG>GGA | p.G203G | SYN | NA | NA | 1/20 |
| 3918 G>A | ND1 | GAG>GAA | p.E204E | SYN | NA | NA | 1/20 |
| 3933 A>G | ND1 | TCA>TCG | p.S209S | SYN | NA | NA | 1/20 |
| *3970 C>T | ND1 | CTA>TTA | p.L222L | SYN | NA | NA | 2/20 |
| 3996 C>T | ND1 | AAC>AAT | p.N230N | SYN | NA | NA | 1/20 |
| 4029 C>A | ND1 | ATC>ATA | p.I241M | NS | Benign/0.07 | NA | 1/20 |
| *4852 T>A | ND2 | CTG>CAG | p.L128Q | NS | 1.951/0.00 | Yes | 2/20 |
| *5186 A>T | ND2 | TGA>TGT | p.W239C | NS | 1.982/0.03 | Yes | 1/20 |
| 5348 C>T | ND2 | TAC>TAT | p.Y293Y | SYN | NA | NA | 1/20 |
| 5351 A>G | ND2 | CTA>CTG | p.L294L | SYN | NA | NA | 1/20 |
| *10310 G>A | ND3 | CTG>CTA | p.T84T | SYN | NA | NA | 1/20 |
| 10609 T>C | ND4L | ATA>ACA | p.M47T | NS | Benign/0.23 | No | 1/20 |
| *11467 A>G | ND4 | TTA>TTG | p.L236L | SYN | NA | NA | 1/20 |
| *11914 G>A | ND4 | ACG>ACA | p.T385T | SYN | NA | NA | 1/20 |
| *12007 G>A | ND4 | TGG>TGA | p.W416W | SYN | NA | NA | 1/20 |
| 12073 C>T | ND4 | TTC>TTT | p.F438F | SYN | NA | NA | 1/20 |
| *12107 C>T | ND4 | CTC>CTT | p.T449T | SYN | NA | NA | 1/20 |
| 12133 C>T | ND4 | TCC>TCT | p.S458S | SYN | NA | NA | 1/20 |
| *12372 G>A | ND5 | CTG>CTA | p.T12T | SYN | NA | NA | 1/20 |
| 12373 A>G | ND5 | ACT>GCT | p.T13A | NS | Benign/0.00 | No | 1/20 |
| 12406 G>A | ND5 | GTT>ATT | p.V24I | NS | 0.299/0.72 | No | 1/20 |
| 12486 C>T | ND5 | CCC>CCT | p.P50P | SYN | NA | NA | 1/20 |
| *12561 G>A | ND5 | CAG>CAA | p.Q75Q | SYN | NA | NA | 1/20 |
| 13204 G>A | ND5 | GTC>ATC | p.V290I | NS | 0.710/1.00 | No | 1/20 |
| 12477 T>C | ND5 | AGT>AGC | p.S47S | SYN | NA | NA | 1/20 |
| 12681 T>C | ND5 | AAT>AAC | p.N115N | SYN | NA | NA | 1/20 |
| 13806 C>T | ND5 | GCC>GCT | p.A490A | SYN | NA | NA | 1/20 |
| 14058 C>T | ND5 | TCC>TCT | p.S574S | SYN | NA | NA | 1/20 |
| *14783 T>C | CYB | TTA>CTA | p.L13L | SYN | NA | NA | 2/20 |
| 14872 C>T | CYB | ATC>ATT | p.I42I | SYN | NA | NA | 1/20 |
| 15119 G>A | CYB | GCA>ACA | p.A125T | NS | 0.760/0.00 | No | 1/20 |
| 15172 G>A | CYB | GGG>GGA | p.G142G | SYN | NA | NA | 1/20 |
| 15217 G>A | CYB | GGG>GGA | p.G157G | SYN | NA | NA | 1/20 |
| 15385 C>T | CYB | TCC>TCT | p.S213S | SYN | NA | NA | 1/20 |
| 15431 G>A | CYB | GCC>ACC | p.A229T | NS | 0.033/0.03 | No | 1/20 |
| 15484 A>G | CYB | TCA>TCG | p.S246S | SYN | NA | NA | 1/20 |
| 15670 T>C | CYB | CAT>CAC | p.H308H | SYN | NA | NA | 1/20 |
| 6032 G>A | CO1 | CAG>CAA | p.Q43Q | SYN | NA | NA | 1/20 |
| 6320 T>C | CO1 | CCT>CCC | p.P139P | SYN | NA | NA | 1/20 |
| 6734 G>A | CO1 | ATG>ATA | p.M277M | SYN | NA | NA | 1/20 |
| 7316 G>A | CO1 | ATG>ATA | p.M471M | SYN | NA | NA | 1/20 |
| 7738 T>C | CO2 | ACT>ACC | p.T51T | SYN | NA | NA | 1/20 |
| 7762 G>A | CO2 | CAG>CAA | p.Q59Q | SYN | NA | NA | 1/20 |
| 8143 T>C | CO2 | GCT>GCC | p.A186A | SYN | NA | NA | 1/20 |
| *8251 G>A | CO2 | GGG>GGA | p.G222G | SYN | NA | NA | 1/20 |
| 8503 T>G | ATP8 | AAT>AAG | p.N46K | NS | 0.090/1.00 | No | 1/20 |
| 8584 G>A | ATP6 | GCA>ACA | p.A20T | NS | 0.362/0.19 | No | 1/20 |
| 8594 T>C | ATP6 | ATC>ACC | p.I23T | NS | 1.579/0.27 | No | 2/20 |
| 8650 C>T | ATP6 | CTA>TTA | p.L42L | SYN | NA | NA | 1/20 |
| *8684C>T | ATP6 | ACC>ATC | p.T53I | NS | 0.219/1.00 | No | 1/20 |
| 8718 A>G | ATP6 | AAA>AAG | p.K64K | SYN | NA | NA | 1/20 |
| 8812 A>G | ATP6 | ACC>GCC | p.T96A | NS | 0.908/0.03 | No | 1/20 |
| *8865G>A | ATP6 | GTG>GTA | p.V113V | SYN | NA | NA | 1/20 |
| 8886 G>A | ATP6 | AAG>AAA | p.K120K | SYN | NA | NA | 1/20 |