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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: R574W cDNA Position: 1720 c→t (exon 10)
Disease	Genetics	Frequency	Reference
PEO	Found in trans w/ W312R in a 37 y.o. male patient w/ PEO, dysphagia, and myopathy.	Not found in 250 control individuals	(Horvath et al., 2006) PubMed
Liver failure, encephalopathy, and epilepsy	Found in trans w/A467T in 2 family members whose parent are unaffected heterozygotes.	Kollberg, 2006: Not found in 200 control alleles	(Kollberg et al., 2006) PubMed
Alpers	Found in trans w/ A467T		(Spinazzola et al., 2009) PubMed
Alpers	Found in trans w/ A467T in 2 pediatric patients w/mitochondrial encephalomyopathy, seizures, ataxia, and ophthalmological involvement		(Sofou et al., 2012) PubMed
Progressive ataxia and epilepsy	Found in trans w/ L411P in a 69 y.o. female with progressive gait ataxia, dysarthria, and myoclonic jerks.		( Ng et al., 2017) PubMed
MDS	Found in a large cohort study.		(Hikmat et al., 2020) PubMed

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