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

Amino Acid Substitution: R953C cDNA Position: 2857 c→t (exon 18)
Disease	Genetics	Frequency	Reference
PEO	ad	Luoma, 2004: None noted in screening of 1640 healthy Finnish control chromosomes.	(Luoma et al., 2004) PubMed
	Reference # rs11546842		PubMed
PEO	Found in trans w/ W748S in a 51 y.o. w/ peripheral neuropathy, ptosis, hypotonia, ataxia, and seizures.	Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies.	(Tang et al., 2011) PubMed
PEO	Autosomal recessive PEO, found as a homozygous mutation in 3 affected siblings and heterozygous in 2 asymptomatic siblings from the same family. One unaffected sibling had no POLG mutations. Symptoms started in early 20's of the 3 affected siblings whic		(Gurgel-Giannetti et al., 2012) PubMed
MNGIE-like	Found in compound with W748S in a 50y.o. male with cognitive impairment, muscle weakness, diarrhea, vomiting, ptosis, and opthalmoparesis.		(Tang et al., 2012) PubMed
MItochondrial toxicity	Found as a heterozygous mutation in a HIV positive patient with mitochondrial toxicity		(Li et al., 2016) PubMed
Epilepsy	Found in a cross-sectional study of 22676 genetic variants associated with epilepsy		(SoRelle et al., 2020) PubMed