Locus |
Description |
Mutation |
Leigh Disease |
|
|
|
ATP6 |
ATP synthase F0 subunit 6 |
T8993C4
|
ATP6 |
ATP synthase F0 subunit 6 |
T8993G4 |
ATP6 |
ATP synthase F0 subunit 6 |
T9176C |
ND3 |
NADH dehydrogenase subunit 3 |
T10158C |
ND3 |
NADH dehydrogenase subunit 3 |
T10191C |
ND3 |
NADH dehydrogenase subunit 3 |
G10197A |
ND4 |
NADH dehydrogenase subunit 4 |
C11777A |
ND5 |
NADH dehydrogenase subunit 5 |
T12706C |
ND5 |
NADH dehydrogenase subunit 5 |
G13513A |
ND6 |
NADH dehydrogenase subunit 6 |
G14459A |
ND6 |
NADH dehydrogenase subunit 6 |
T14487C |
|
|
|
MELAS 2 |
|
|
|
TF |
tRNA phenylalanine |
G583A |
TL1 |
tRNA leucine (UUR) |
A3243G |
TL1 |
tRNA leucine (UUR) |
C3256T |
TL1 |
tRNA leucine (UUR) |
T3271C |
TL1 |
tRNA leucine (UUR) |
T3291C |
ND1 |
NADH Dehydrogenase subunit 1 |
T3308C |
TQ |
tRNA glutamine |
G4332A |
TH |
tRNA histidine |
G12147A |
ND5 |
NADH dehydrogenase subunit 5 |
G13513A |
ND5 |
NADH dehydrogenase subunit 5 |
A13514G |
ND6 |
NADH dehydrogenase subunit 6 |
G14453A |
|
|
|
Mitochondrial Myopathy |
|
|
|
TF |
tRNA phenylalanine |
G583A |
TL1 |
tRNA leucine (UUR) |
A3243G |
TL1 |
tRNA leucine (UUR) |
A3302G |
TN |
tRNA asparagine |
G5703A |
TS1 |
tRNA serine (UCN) |
G7497A |
TE |
tRNA glutamic acid |
T14709C |
|
|
|
MERRF2 |
|
|
|
TK |
tRNA lysine |
A8344G |
TK |
tRNA lysine |
T8356C |
TK |
tRNA lysine |
G8363A |
TH |
tRNA histidine |
G12147A |
|
|
|
Cardiomyopathy3 |
|
|
|
TL1 |
tRNA leucine (UUR) |
A3260G |
TL1 |
tRNA leucine (UUR) |
C3303T |
|
|
|
PEO2 |
|
|
|
TL1 |
tRNA leucine (UUR) |
A3243G |
TI |
tRNA isoleucine |
G4298A |
TN |
tRNA asparagine |
G5703A |
TL2 |
tRNA leucine (CUN) |
G12315A |
|
|
|
LHON2 |
|
|
|
ND1 |
NADH Dehydrogenase subunit 1 |
G3460A |
ND4 |
NADH Dehydrogenase subunit 4 |
G11778A |
ND6 |
NADH Dehydrogenase subunit 6 |
G14459A |
ND6 |
NADH Dehydrogenase subunit 6 |
C14482G |
ND6 |
NADH Dehydrogenase subunit 6 |
T14484C |
ND6 |
NADH Dehydrogenase subunit 6 |
C14568T |
|
|
|
