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. 2018 Sep 5;8:13301. doi: 10.1038/s41598-018-31489-0

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