Table 5.

Mutations in nuclear and mitochondrial genes associated with mitochondrial complex V deficiency. Adapted and modified from [52] under the Creative Commons Attribution (CC BY) license. * indicates a STOP codon.

Subunit or Assembly Factor	mtDNA or nDNA Mutation	Protein Mutation	Assembly	OMIM
ATP6 (a subunit)	m.8993T>G	p.Leu156Arg	Normal	516060
	m.8993T>C	p.Leu156Pro	Nd	516060
	m.9176T>G	p.Leu217Arg	Impaired	516060
	m.9176T>C	p.Leu217Pro	Impaired	516060
	m.9035T>C	p.Leu170Pro	Nd	Not present
	m.9185T>C	p.Leu220Pro	Nd	5160600
	m.9191T>C	p.Leu222Pro	Impaired (in yeast)	Not present
	m.8969G>A	p.Ser148Asn	Nd	516060
	m.8611_8612 insC	p.Leu29Profs *36	Impaired	516060
ATP6 (a subunit) and ATP8 (A6L subunit)	m.8528T>C	a p.Met1Thr + A6L p.Trp55Arg	Impaired	516060
	m.8529G>A	a p.Met1Ile + A6L p.Trp55 *	Impaired	516070
	m.8561C>G	a p.Pro12Arg + A6L p.Pro66Ala	Impaired	516060-516070
	m.8561C>T	a p.Pro12Leu + A6L p.Pro66Ser	Impaired	516060-516070
ATP5F1E (ε subunit)	c.35A>G	p.Tyr12Cys	Impaired	606153
ATP5F1A (α subunit)	c.985C>T	p.Arg329Cys	Impaired	164360
	c.962A>G	p.Tyr321Cys	Nd	164360
ATP5F1D (δ subunit)	c.245C>T	p.Pro82Leu	Impaired	603150
	c.317T>G	p.Val106Gly	Impaired	603150
ATP5MK (DAPIT subunit)	c.87+1G>C	/	Impaired	615204
ATPAF2	c.280T>A	p.Trp94Arg	Impaired	688918
TMEM70	c.317–2A>G	/	Impaired	612418