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: A889T cDNA Position: 2665 g→a (exon 17)
Disease	Genetics	Frequency	Reference
PEO	Sporadic / unknown Compound with R579W Compound with E1143G	Filosto, 2003: not detected in 120 healthy control alleles	(Filosto et al., 2003) PubMed
PEO	Sporadic / unknown Compound with R579W Compound with E1143G		(Hisama et al., 2005) PubMed
Epilepsy	Found in a cross-sectional study of 22676 genetic variants associated with epilepsy		(SoRelle et al., 2020) PubMed