Table 4

Novel and rare mitochondrial DNA variants found in patients with oxidative phosphorylation system deficiency

Patient	Tissue studied	Nucleotide variant	Haplogroup	Gene	Amino acid change	OXPHOS defect	Conservation index (%)
B, blood; F, fibroblasts; M, muscle; NA, not applicable; OXPHOS, oxidative phosphorylation.
*Decreased pyruvate oxidation and adenosine triphosphate production.
E	B	686A→G	U6	MT-RNR1	NA	I	NA
E	B	9891T→C	U6	MT-CO3	Ser229Pro	I	90
J	M	12188T→C	U5a	MT-TH	NA	I+III	NA
J	M	13630A→G	U5a	MT-ND5	Thr432Ala	I+III	28
C	F	4681T→C	T2	MT-ND2	Leu71Pro	I	36
G	F	14122A→G	I	MT-ND5	Ile596Val	Other*	26
Y	M	3460G→A	J1	MT-ND1	Ala52Thr	I	90
Y	M	6681T→C	J1	MT-CO1	Tyr260His	I	82