Table 2 of Tanwar, Mol Vis 2010; 16:518-533.
Sample number |
Genomic position |
Base change |
Gene/ Location |
Amino acid position |
Codon change |
Amino acid change |
Change in protein |
Syn/ Non-syn |
GenBank accession number if novel |
---|---|---|---|---|---|---|---|---|---|
1 | 3591 | G>A | ND1 | 95 | CTG>CTA | Thr>Thr | p.T95T | syn | - |
2 | 3915 | G>A | ND1 | 203 | GGG>GGA | Gly>Gly | p.G203G | syn | - |
3 | 3918 | G>A | ND1 | 204 | GAG>GAA | Glu>Glu | p.E204E | syn | - |
4 | 3933 | A>G | ND1 | 209 | TCA>TCG | Ser>Ser | p.S209S | syn | GU397544 |
5 | 3970 | C>T | ND1 | 222 | CTA>TTA | Leu>Leu | p.L222L | syn | - |
6 | 3996 | C>T | ND1 | 230 | AAC>AAT | Asn>Asn | p.N230N | syn | - |
7 | 4029 | C>A | ND1 | 241 | ATC>ATA | Ile>Ile | p.I241I | syn | GU397545 |
8 | 4093 | A>G | ND1 | 263 | ACC>GCC | Thr>Ala | p.T263A | non-syn | - |
9 | 4793 | A>G | ND2 | 108 | ATA>ATG | Met>Met | p.M108M | syn | - |
10 | 4852 | T>A | ND2 | 128 | CTG>CAG | Leu>Gln | p.L128Q | non-syn | GU397533 |
11 | 5186 | A>T | ND2 | 239 | TGA>TGT | Trp>Cys | p.W239C | non-syn | - |
12 | 5348 | C>T | ND2 | 293 | TAC>TAT | Tyr>Tyr | p.Y293Y | syn | - |
13 | 5351 | A>G | ND2 | 294 | CTA>CTG | Leu>Leu | p.L294L | syn | - |
14 | 6305 | G>A | CO1 | 134 | GGG>GGA | Gly>Gly | p.G134G | syn | - |
15 | 6719 | T>C | CO1 | 272 | GGT>GGC | Gly>Gly | p.G272G | syn | - |
16 | 6962 | G>A | CO1 | 353 | CTG>CTA | Thr>Thr | p.T353T | syn | - |
17 | 7316 | G>A | CO1 | 471 | ATG>ATA | Met>Met | p.M471M | syn | – |
18 | 7738 | T>C | CO2 | 51 | ACT>ACC | Thr>Thr | p.T51T | syn | - |
19 | 7762 | G>A | CO2 | 59 | CAG>CAA | Gln>Gln | p.Q59Q | syn | - |
20 | 8143 | T>C | CO2 | 186 | GCT>GCC | Ala>Ala | p.A186A | syn | GU397549 |
21 | 8251 | G>A | CO2 | 222 | GGG>GGA | Gly>Gly | p.G222G | syn | - |
22 | 8503 | T>G | ATP8 | 46 | AAT>AAG | Asp>Lys | p.N46K | non-syn | GU397551 |
23 | 8584 | G>A | ATP6 | 20 | GCA>ACA | Ala>Thr | p.A20T | non-syn | - |
24 | 8594 | T>C | ATP6 | 23 | ATC>ACC | Ile>Thr | p.I23T | non-syn | - |
25 | 8650 | C>T | ATP6 | 42 | CTA>TTA | Leu>Leu | p.L42L | syn | - |
26 | 8718 | A>G | ATP6 | 64 | AAA>AAG | Lys>Lys | p.K64K | syn | - |
27 | 8812 | A>G | ATP6 | 96 | ACC>GCC | Thr>Ala | p.T96A | non-syn | - |
28 | 8886 | G>A | ATP6 | 120 | AAG>AAA | Lys>Lys | p.K120K | syn | GU397552 |
29 | 8925 | A>G | ATP6 | 133 | ACA>ACG | Thr>Thr | p.T133T | syn | - |
30 | 10310 | G>A | ND3 | 84 | CTG>CTA | Thr>Thr | p.T84T | syn | - |
31 | 10609 | T>C | ND4L | 47 | ATA>ACA | Met>Thr | p.M47T | non-syn | - |
32 | 11467 | A>G | ND4 | 236 | TTA>TTG | Leu>Leu | p.L236L | syn | - |
33 | 11914 | G>A | ND4 | 385 | ACG>ACA | Thr>Thr | p.T385T | syn | - |
34 | 12007 | G>A | ND4 | 416 | TGG>TGA | Trp>Trp | p.W416W | syn | - |
35 | 12073 | C>T | ND4 | 438 | TTC>TTT | Phe>Phe | p.F438F | syn | GU397542 |
36 | 12107 | C>T | ND4 | 449 | CTC>CTT | Thr>Thr | p.T449T | syn | GU397543 |
37 | 12133 | C>T | ND4 | 458 | TCC>TCT | Ser>Ser | p.S458S | syn | - |
38 | 12372 | G>A | ND5 | 12 | CTG>CTA | Tyr>Tyr | p.T12T | syn | - |
39 | 12373 | A>G | ND5 | 13 | ACT>GCT | Thr>Ala | p.T13A | non-syn | - |
40 | 12406 | G>A | ND5 | 24 | GTT>ATT | Val>Ile | p.V24I | non-syn | - |
41 | 12486 | C>T | ND5 | 50 | CCC>CCT | Pro>Pro | p.P50P | syn | GU397534 |
42 | 12498 | C>T | ND5 | 54 | TTC>TTT | Phe>Phe | p.F54F | syn | GU397538 |
43 | 12561 | G>A | ND5 | 75 | CAG>CAA | Gln>Gln | p.Q75Q | syn | - |
44 | 13204 | G>A | ND5 | 290 | GTC>ATC | Val>Ile | p.V290I | non-syn | GU397535 |
45 | 13299 | A>G | ND5 | 321 | CAA>CAG | Gln>Gln | p.Q321Q | syn | - |
46 | 13676 | A>G | ND5 | 447 | AAC>AGC | Asn>Ser | p.N447S | non-syn | GU397540 |
47 | 13731 | A>G | ND5 | 465 | GGA>GGG | Gly>Gly | p.G465G | syn | - |
48 | 13860 | C>T | ND5 | 490 | GCC>GCT | Ala>Ala | p.A490A | syn | GU397541 |
49 | 14058 | C>T | ND5 | 574 | TCC>TCT | Ser>Ser | p.S574S | syn | - |
50 | 14783 | T>C | CYB | 13 | TTA>CTA | Leu>Leu | p.L13L | syn | - |
51 | 14872 | C>T | CYB | 42 | ATC>ATT | Ile>Ile | p.I42I | syn | - |
52 | 15119 | G>A | CYB | 125 | GCA>ACA | Ala>Thr | p.A125T | non-syn | - |
53 | 15172 | G>A | CYB | 142 | GGG>GGA | Gly>Gly | p.G142G | syn | - |
54 | 15217 | G>A | CYB | 157 | GGG>GGA | Gly>Gly | p.G157G | syn | - |
55 | 15385 | C>T | CYB | 213 | TCC>TCT | Ser>Ser | p.S213S | syn | - |
56 | 15431 | G>A | CYB | 229 | GCC>ACC | Ala>Thr | p.A229T | non-syn | - |
57 | 15484 | A>G | CYB | 246 | TCA>TCG | Ser>Ser | p.S246S | syn | GU397547 |
58 | 15670 | T>C | CYB | 308 | CAT>CAC | His>His | p.H308H | syn | - |