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Human DNA Polymerase Gamma Mutation Database

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

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Amino Acid Substitution: F749S cDNA Position: 2246 t→c (exon 13)
Disease	Genetics	Frequency	Reference
Alpers	Found in compound with A467T	Not found in 300 control chromosomes	(Nguyen et al., 2006) PubMed
PEO	Found in trans w/ c.3104 +3a→t in a 66 y.o. w/ PEO, ptosis, myopathy, and muscle weakness	Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies.	(Tang et al., 2011) PubMed
Seizures	Found in trans w/ A467T in a 6 y.o. w/ seizures	Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies.	(Tang et al., 2011) PubMed
	Found in trans w/ A467T in an 8 mo. symptoms not noted	Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies.	(Tang et al., 2011) PubMed
Optic atrophy	Found in trans w/c.3104+3A>T in a 65 y.o. male with ptosis, dysphagia, exercise induced myalgia, limb weakness, and diabetes.		(Milone et al., 2011) PubMed
MDS	Found in a large cohort study.		(Hikmat et al., 2020) PubMed
Epilepsy	Found in a cross-sectional study of 22676 genetic variants associated with epilepsy		(SoRelle et al., 2020) PubMed

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