Table 1.

Mitochondrial DNA mutations associated with a kidney phenotype

	Mutation	Gene	Renal phenotype	References
Mitochondrial DNA point mutations
	m.G586A	mt-tRNAPhe	TIN	21
	m.A608G	mt-tRNAPhe	TIN	20
	m.G3242A	mt-tRNALeu	Renal failure, RTA type 4	80,81
	m.3243	mt-tRNALeu	FSGS	12–14,23–26, 28,29,31–35,82
	m.3243	mt-tRNALeu	TIN	11,12
	m.A4269G	mt-tRNAIle	FSGS	17
	m.A5656G	aNoncoding	TIN	22
	m.A5728G	mt-tRNAAsn	FSGS	18
	m.A5843G	mt-tRNATyr	FSGS	19
	m.12425delA	ND5	Glomerulocystic disease, renal failure	36
Figure 1 label	Deletion size	Deletion location	Renal phenotype	References
Mitochondrial DNA deletions
1	6,000 base pairs	∼6,000–12,000	Proximal tubulopathy	45
2	7,500 base pairs	∼6,100–13,600	FSGS, RTA	42
3	8,800 base pairs	∼6,800–15,600	Distal tubulopathy	39
4	7,315 base pairs	7,325–14,639	Proximal tubulopathy, TIN	46
5	5,700 base pairs	∼8,400–14,100	Proximal tubulopathy	43
6	4,977 base pairs	8,469–13,447	Proximal tubulopathy	44,47
7	2,800 base pairs	∼10,000–12,800	Proximal tubulopathy, TIN	40
8	2,608 base pairs	10,598–13,206	TIN	41

Note:

^aSingle noncoding base between mt-tRNA^Ala and mt-tRNA^Asn.

Abbreviations: DNA, deoxyribonucleic acid; mt-tRNA, mitochondrial transfer ribonucleic acid; TIN, tubulointerstitial nephritis; FSGS, focal segmental glomerulosclerosis; RTA, renal tubular acidosis; Phe, phenylalanine; Leu, leucine; Ile, isoleucine; Tyr, tyrosine; Ala, alanine; ND5, NADH dehydrogenase 5.