Table 1.

Mutations found in cells taken from crypts with single and multiple complex deficiencies.

Subject	Cell	Complex expression defect	Mutation	Gene	Level (%)	Amino acid change	Amino acid conservation	Database status
1	1	I,III,IV	m.13681A>G	MT-ND5	100	p.T449A	Poor	mtDB: 10/2704
1	1	I,III,IV	m.2559A>G	MT-RNR2	50	–	–	Not reported
1	3	I,III,IV	m.9714G>A	MT-CO3	100	p.G170S	Moderate	Not reported
1	5	I,III,IV	m.5997G>A	MT-CO1	100	p.A32T	Poor	Not reported
1	6	I,III,IV	m.1905G>A	MT-RNR2	100	–	–	Not reported
1	7	I,III,IV	m.14704T>C	MT-TE	100	–	–	Not reported
1	8	I only	m.13681A>G	MT-ND5	100	p.T449A	Poor	mtDB: 10/2704
2	1	I,III,IV	m.10761T>C	MT-ND4L	80	p.C98R	High	Not reported
2	2	I,III,IV	m.1101 A>G	MT-ND4	50	p.S86G	Poor	mtDB: 1/2704
2	3	I,III,IV	m.9247G>A	MT-CO3	100	p.S14 N	High	Not reported
2	4	I,III,IV	m.15077G>A	MT-CYB	100	p.E111L	Moderate	mtDB: 2/2704
2	8	I,III,IV	m.13916G>A	MT-ND5	40	p.G526E	High	Not reported
2	9	I,III,IV	m.2816G>A	MT-RNR2	100	–	–	Not reported
2	10	I only	m.10971G>A	MT-ND4	100	p.W71X	High	Not reported

Single cells were laser-microdissected from colonic crypts with expression defects in single and multiple complexes, and their entire mitochondrial genome sequenced. The changes listed here are not present in the homogenate mtDNA sequence for that subject. Amino acid conservation was assessed using the PIR-International Protein Sequence Database, (Wu et al., 2002). Abbreviations: T, threonine; A, alanine; G, glycine; S, serine; C, cysteine; R, arginine; N, asparagine; E, glutamic acid; L, lysine; W, tryptophan; TERM, termination codon. The following databases were checked to determine whether these had previously been reported as mtDNA polymorphisms: (i) MITOMAP (http://www.mitomap.org/), (Brandon et al., 2005a); (ii) mtDB (http://www.genpat.uu.se/mtDB/), (Ingman and Gyllensten, 2006).