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 |
Abbreviations; SYN represents synonymous; NS represents non-synonymous; ND1 represents NADH dehydrogenase subunit 1; ND2 represents NADH dehydrogenase subunit 2; ND3 represents NADH dehydrogenase subunit 3; ND4 represents NADH dehydrogenase subunit 4; ND5 represents NADH dehydrogenase subunit 5; CO1 represents cytochrome c oxidase I ; CO2 represents cytochrome c oxidase II; ATPase6- represents ATP synthase subunit a (F-ATPase protein 6) ; ATPase8 represents ATP synthase protein 8 ; CYB represents cytochrome B; NA represents Not applicable.