Table 4. Complex 1 variations observed in controls.
| 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 |
Abbreviations: A – Adenine; T – Thymine; G- Guanine; C- Cytosine; ND1 represents NADH dehydrogenase subunit 1, ND2 represents NADH dehydrogenase subunit 2;ND3- NADH dehydrogenase subunit 3; ND4-NADH dehydrogenase subunit 4; ND5- NADH dehydrogenase subunit 5.