Table 4 of Pathak, Mol Vis 2011; 17:1514-1525.
Sample number |
Genomic position |
Base change |
Locus |
Amino acid position |
Codon change |
Amino acid change |
Change in protein |
---|---|---|---|---|---|---|---|
1 | 3591 | G>A | ND1 | 95 | CTG>CTA | Thr>Thr | p.T95T |
2 | 3915 | G>A | ND1 | 203 | GGG>GGA | Gly>Gly | p.G203G |
3 | 3918 | G>A | ND1 | 204 | GAG>GAA | Glu>Glu | p.E204E |
4 | 3933 | A>G | ND1 | 209 | TCA>TCG | Ser>Ser | p.S209S |
5 | 3970 | C>T | ND1 | 222 | CTA>TTA | Leu>Leu | p.L222L |
6 | 3996 | C>T | ND1 | 230 | AAC>AAT | Asn>Asn | p.N230N |
7 | 4093 | A>G | ND1 | 263 | ACC>GCC | Thr>Ala | p.T263A |
8 | 4029 | C>A | ND1 | 241 | ATC>ATA | Ile>Ile | p.I241I |
9 | 4793 | A>G | ND2 | 108 | ATA>ATG | Met>Met | p.M108M |
10 | 4852 | T>A | ND2 | 128 | CTG>CAG | Leu>Gln | p.L128Q |
11 | 5186 | A>T | ND2 | 239 | TGA>TGT | Trp>Cys | p.W239C |
12 | 5348 | C>T | ND2 | 293 | TAC>TAT | Tyr>Tyr | p.Y293Y |
13 | 10310 | G>A | ND3 | 84 | CTG>CTA | Thr>Thr | p.T84T |
14 | 11467 | A>G | ND4 | 236 | TTA>TTG | Leu>Leu | p.L236L |
15 | 11914 | G>A | ND4 | 385 | ACG>ACA | Thr>Thr | p.T385T |
16 | 12007 | G>A | ND4 | 416 | TGG>TGA | Trp>Trp | p.W416W |
17 | 12073 | C>T | ND4 | 438 | TTC>TTT | Phe>Phe | p.F438F |
18 | 12107 | C>T | ND4 | 449 | CTC>CTT | Thr>Thr | p.T449T |
19 | 12133 | C>T | ND4 | 458 | TCC>TCT | Ser>Ser | p.S458S |
20 | 13299 | A>G | ND5 | 321 | CAA>CAG | Gln>Gln | p.Q321Q |
21 | 12372 | G>A | ND5 | 12 | CTG>CTA | Tyr>Tyr | p.T12T |
22 | 12373 | A>G | ND5 | 13 | ACT>GCT | Thr>Ala | p.T13A |
23 | 12406 | G>A | ND5 | 24 | GTT>ATT | Val>Ile | p.V24I |
24 | 12486 | C>T | ND5 | 50 | CCC>CCT | Pro>Pro | p.P50P |
25 | 12498 | C>T | ND5 | 54 | TTC>TTT | Phe>Phe | p.F54F |
26 | 12561 | G>A | ND5 | 75 | CAG>CAA | Gln>Gln | p.Q75Q |
27 | 13731 | A>G | ND5 | 465 | GGA>GGG | Gly>Gly | p.G465G |
28 | 13806 | C>T | ND5 | 490 | GCC>GCT | Ala>Ala | p.A490A |
29 | 14058 | C>T | ND5 | 574 | TCC>TCT | Ser>Ser | p.S574S |