Table 2.

Mitochondrial Genome Variants Identified in Single EOM Fibers

Patient/Fiber	Variant	Gene	Level	AA Change	Conservation	Databases
M8
F1 +ve	m.195_196insA	Noncoding	Homoplasmic	—	—	Not reported
F3 +ve	m.195_196insA	Noncoding	Homoplasmic	—	—	Not reported
	m.3472T>C	MTND1	Heteroplasmic (60%)	p.Phe56Leu	Poor	mtDB: 1/2704
F3 −ve	m.564G>A*	Noncoding	Homoplasmic	—	—	Not reported
F8 −ve	m.901G>A	MTRNR1	Heteroplasmic (80%)	—	—	Not reported
F16 −ve	m.564G>A*	Noncoding	Homoplasmic	—	—	Not reported
M9
F15 −ve	m.73A>G	Noncoding	Homoplasmic	—	—	Polymorphism
	m.3089A>C	MTRNR2	Homoplasmic	—	—	Not reported
	m.5547A>G	MTTW	Homoplasmic	—	High	Not reported
F16 −ve	m.482_565del*	Noncoding	Homoplasmic	—	—	Not reported
M12
F1 +ve	m.72T>C	Noncoding	Homoplasmic	—	—	Polymorphism
F3 +ve	m.2405C>T	MTRNR2	Homoplasmic	—	—	Not reported
F1 −ve	m.5459C>T	MTND2	Homoplasmic	p.Ile330lle	Poor	mtDB: 1/2703
	m.8089A>G	MTCO2	Homoplasmic	p.Leu168Leu	High	Not reported
	m.8251G>A	MTCO2	Homoplasmic	p.Gly222Gly	Poor	Polymorphism
	m.8855C>T	MTATP6	Homoplasmic	p.Ala110Val	Poor	mtDB: 1/2703
	m.8994G>A	MTATP6	Homoplasmic	p.Leu156Leu	High	Polymorphism
F4 −ve	m.2386C>T	MTRNR2	Homoplasmic	—	—	mtDB: 1/2704
	m.10972G>A	MTND4	Homoplasmic	p.Trp71Trp	High	mtDB: 2/2704
F7 −ve	m.72T>C	Noncoding	Homoplasmic	—	—	Polymorphism
F8 −ve	m.4035A>G	MTND1	Homoplasmic	p.Leu243Leu	Poor	Not reported

The variants listed were not found in other single EOM fibers sequenced from the same patient, and the following databases were checked to determine whether these had been reported as mtDNA single nucleotide polymorphisms: MITOMAP²⁹ (http://www.mitomap.org/Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA); mtDB³⁴ (http://www.genpat.uu.se/mtDB/ Department of Genetics and Pathology, University of Uppsala, Sweden); and mtDNA databases³⁵ (MitoKor, San Diego, CA). The evolutionary conservation of altered amino acid (AA) residues was assessed with the PIR-International Protein Sequence Database (http://pir.georgetown.edu/ Bioinformatics Graduate Program, Georgetown University, Washington, DC)³⁶ and the m.5547A>G tRNA variant was analyzed with the Mamit-tRNA database (http://mamit-trna.u-strasbg.fr/tables.asp?aminoacid = 25/ Institute of Molecular and Cellular Biology, University of Strasbourg, France). Ala, alanine; F, fiber; Gly, glycine; Ile, isoleucine; Leu, leucine; Phe, phenylalanine; Trp, tryptophan; Val, valine.

^*Within the major H-strand promoter region (545–567) of the noncoding control region.