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Human DNA Polymerase Gamma Mutation Database

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

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Amino Acid Substitution: R1128H cDNA Position: 3383 g→a (exon 21)
Disease	Genetics	Frequency	Reference
Microcephaly	Heterozygous, found w/ G517V		(Wong et al., 2008) PubMed
Epilepsy	Found in a cross-sectional study of 22676 genetic variants associated with epilepsy		(SoRelle et al., 2020) PubMed

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