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: K1191N cDNA Position: 3573 g→t (exon 22)
Disease	Genetics	Frequency	Reference
Alpers	Compound in trans with A467T	Not found in 250 control individuals	(Horvath et al., 2006) PubMed
PEO	Found in trans w/ T251I and P587L in a 39 y.o. w/ PEO, neuropathy, ptosis, and muscle weakness	Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies.	(Tang et al., 2011) PubMed
Epilepsy	Found in a cross-sectional study of 22676 genetic variants associated with epilepsy		(SoRelle et al., 2020) PubMed