Table 4 of Kumar, Mol Vis 2010; 16:782-792. Table 4 of Kumar, Mol Vis 2010; 16:782-792.
Table 4. Mitochondrial DNA sequence changes in controls
Sample number |
Nucleotide substitution |
Codon Change |
Amino acid change |
Locus |
Change in protein |
Type of Mutation |
PolyPhen/ SIFT score |
Pathogenecity |
|---|---|---|---|---|---|---|---|---|
| 1 | 3591G>A | CTG>CTA | Thr>Thr | ND1 | p.T95T | SYN | NA | NA |
| 2 | 3915G>A | GGG>GGA | Gly>Gly | ND1 | p.G203G | SYN | NA | NA |
| 3 | 3918G>A | GAG>GAA | Glu>Glu | ND1 | p.E204E | SYN | NA | NA |
| 4 | 3933A>G | TCA>TCG | Ser>Ser | ND1 | p.S209S | SYN | NA | NA |
| 5 | 4093A>G | ACC>GCC | Thr>Ala | ND1 | p.T263A | NS | 0.476/0.38 | No |
| 6 | 4793A>G | ATA>ATG | Met>Met | ND2 | p.M108M | SYN | NA | NA |
| 7 | 5351A>G | CTA>CTG | Leu>Leu | ND2 | p.L294L | SYN | NA | NA |
| 8 | 6305G>A | GGG>GGA | Gly>Gly | CO1 | p.G134G | SYN | NA | NA |
| 9 | 6962G>A | CTG>CTA | Thr>Thr | CO1 | p.T353T | SYN | NA | NA |
| 10 | 7738T>C | ACT>ACC | Thr>Thr | CO2 | p.T51T | SYN | NA | NA |
| 11 | 7762G>A | CAG>CAA | Gln>Gln | CO2 | p.Q59Q | SYN | NA | NA |
| 12 | 8143T>C | GCT>GCC | Ala>Ala | CO2 | p.A186A | SYN | NA | NA |
| 13 | 8251G>A | GGG>GGA | Gly>Gly | CO2 | p.G222G | SYN | NA | NA |
| 14 | 8503T>G | AAT>AAG | Asp>Lys | ATP8 | p.N46K | NS | 0.090/1.00 | No |
| 15 | 8584G>A | GCA>ACA | Ala>Thr | ATP6 | p.A20T | NS | 0.362/0.19 | No |
| 16 | 8650C>T | CTA>TTA | Leu>Leu | ATP6 | p.L42L | SYN | NA | NA |
| 17 | 8718A>G | AAA>AAG | Lys>Lys | ATP6 | p.K64K | SYN | NA | NA |
| 18 | 8886G>A | AAG>AAA | Lys>Lys | ATP6 | p.K120K | SYN | NA | NA |
| 19 | 10310G>A | CTG>CTA | Thr>Thr | ND3 | p.T84T | SYN | NA | NA |
| 20 | 11467A>G | TTA>TTG | Leu>Leu | ND4 | p.L236L | SYN | NA | NA |
| 21 | 11914G>A | ACG>ACA | Thr>Thr | ND4 | p.T385T | SYN | NA | NA |
| 22 | 12372G>A | CTG>CTA | Tyr>Tyr | ND5 | p.T12T | SYN | NA | NA |
| 23 | 12406G>A | GTT>ATT | Val>Ile | ND5 | p.V24I | NS | 0.299/0.72 | No |
| 24 | 12486C>T | CCC>CCT | Pro>Pro | ND5 | p.P50P | SYN | NA | NA |
| 25 | 12498C>T | TTC>TTT | Phe>Phe | ND5 | p.F54F | SYN | NA | NA |
| 26 | 12561G>A | CAG>CAA | Gln>Gln | ND5 | p.Q75Q | SYN | NA | NA |
| 27 | 13204G>A | GTC>ATC | Val>Ile | ND5 | p.V290I | NS | 0.710/1.00 | No |
| 28 | 15172G>A | GGG>GGA | Gly>Gly | CYB | p.G142G | SYN | NA | NA |
| 29 | 15217G>A | GGG>GGA | Gly>Gly | CYB | p.G157G | SYN | NA | NA |