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: N864S cDNA Position: 2591 a→g (exon 16)
Disease	Genetics	Frequency	Reference
PEO	Found as compound with T251I-P587L	Not found in 280 control chromosomes	(Van Goethem et al., 2003c) PubMed
Epilepsy	Found as heterozygous in trans with A1217P in a 3-year-old girl presented with severe epilepsy in the context of Borrelia infection.		(Gaudó et al., 2020) PubMed
Alpers-Huttenlocher syndrome	Found in trans with A1217P from the largest Russian cohort for mitochondrial DNA maintenance disorders.	1 out of 59 patients with POLG mutations	(Bychkov et al., 2021) PubMed