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All inquiries, additions to the list, and comments should be made to Bill Copeland.

Amino Acid Substitution: R869Q cDNA Position: 2606 g→a (exon 17)
Disease	Genetics	Frequency	Reference
Myopathy w/ neurogenic atrophy; sensomotor axonal polyneuropathy, ataxia, and ptosis	Autosomal recessive, found in a 32 yr. old pt.	<0.5% in Dutch population	(Blok and van den Bosch et al., 2009) PubMed
PEO	Found in trans w/ K319E in a 44 y.o. w/ PEO, ataxia, neuropathy, and muscle weakness	Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies.	(Tang et al., 2011) PubMed
SANDO	Found in trans w/P587L and w/T251I in a 34 y.o. female with ataxia, ptosis, diabetes and mtDNA deletions.		(Hanisch et al., 2014) PubMed
Epilepsy	Found in a cross-sectional study of 22676 genetic variants associated with epilepsy		(SoRelle et al., 2020) PubMed
Hepaticencephalopathy, Alpers-Huttenlocher	Found as compound heterzygous in trans with G1051R in a one year old boy. Death at 1.8 years old.		(Dai et al., 2019) PubMed