Table 1.

MtDNA somatic point mutations identified by whole mtDNA genome sequencing of individual COX (cytochrome c oxidase) deficient skeletal muscle fibers from nucleoside analog (NRTI) treated HIV-infected subjects where a large-scale mtDNA deletion was not detected in that fiber (n = 29 COX deficient fibers sequenced from 7 subjects; subjects identified in Supplementary Table 1, online). Likely pathogenicity (that is accounting for the cellular COX defect) was ascribed if mutations resulted in an amino acid change within a coding gene, at a position which demonstrated high inter-species conservation and is not polymorphic within human populations. Population frequencies were taken from Pereira et al (* one variant, 12797T>C had been observed only as a somatic variant in a single human sequence)¹⁷. In fibers from two subjects (7 and 20) no point mutations were identified. Syn, synonymous.

Subject	Somatic Mutation / Variant		Population frequency (in 5140 seq.)
Likely Pathogenic Somatic Changes in Coding Region (mt.577-16023)
8	m.7818T>C	L68P (CO2)	0
8	m.9253G>A	D15N (CO3)	0
8	m.12797T>C	L154P (ND5)	1*
2	m.6579G>A	G226Ter (CO1)	0
11	m.9907G>A	G234D (CO3)	0
15	m.6580G>A	G226E (CO1)	0
Non-Pathogenic Somatic Changes in Coding Region (mt.577-16023)
8	m.7906C>T	syn	1
8	m.11467A>G	syn	608
Somatic Changes in Control Region (mt.16024-576)
8	m.408T>A	non-coding	10
8	m.463CAC>Del	non-coding	0
2	m.408T>A	non-coding	10
17	m.408T>A	non-coding	10
17	m.414T>G	non-coding	0