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: R309H cDNA Position: 926 g→a (exon 4)
Disease	Genetics	Frequency	Reference
Alpers	Compound in trans with R627Q	Not found in 250 control individuals	(Horvath et al., 2006) PubMed
Epilepsy ataxia and developmental delay	Found in trans with G1051R in a 32 y.o. male with severe neuropathy, achalasia, epilepsy, and developmentally delayed.		(Pozzo et al., 2017) PubMed
Charcot-Marie-Tooth disease	Found as compound heterozygous in trans with G737R in a 6 year-old girl with a complex phenotype that included early onset axonal Charcot?Marie?Tooth disease (CMT).		(Phillips et al., 2019) PubMed