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: R1047W cDNA Position: 3139 c→t (exon 20)
Disease	Genetics	Frequency	Reference
Alpers	Compound in trans with T851A	Not found in over 200 control alleles	(Wiltshire et al., 2008) PubMed
PEO	Found in trans w/A862T in a 61 y.o. with PEO, ataxia, and mtDNA deletions		(Stewart et al., 2009) PubMed
PEO	Found in trans w/ A862T in a 61 y.o. female with PEO, ptosis, peripheral neuropathy, ataxia, and dysarthria.		(Lax et al., 2012a) PubMed
Epilepsy	Found in a cross-sectional study of 22676 genetic variants associated with epilepsy		(SoRelle et al., 2020) PubMed