Table 1.
Frequency of Mutations in the mtDNA ETC genes in Patients with AML (+denotes one patient with mutations in both ND1 and ND5).
Complex | Gene | Amino Acid Change | Mutation Type | No. of Patients |
---|---|---|---|---|
Complex I | ND1 | Y43H+ | Missense | 1 (0.5%) |
ND2 | — | — | — | |
ND3 | — | — | — | |
ND4 | — | — | — | |
ND4L | — | — | — | |
ND5 | S345P, S476P | Missense | 4 (2.0%) | |
L260P+ | Missense | |||
N452S | Missense | |||
P242Qfs*? | Truncating | |||
ND6 | — | — | — | |
Complex III | CYB | V73M | Missense | 3 (1.50%) |
M89I | Missense | |||
A302T | Missense | |||
Complex IV | CO1 | G435E | Missense | 2 (1.0%) |
M237V | Missense | |||
CO2 | L126S | Missense | 5 (2.5%) | |
D173N | Missense | |||
V191M | Missense | |||
T66A | Missense | |||
D112N | Missense | |||
CO3 | L175P | Missense | 2 (1.0%) | |
V254A | Missense | |||
ATP Synthase | ATP6 | M60T | Missense | 1 (0.5%) |
ATP8 | — | — | — |