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: M1163R cDNA Position: 3488 t→g (exon 22)
Disease	Genetics	Frequency	Reference
Liver failure, encephalopathy, and epilepsy	Found as compound in trans with W748S - E1143G	Not found in 200 control alleles	(Kollberg et al., 2006) PubMed
Alpers	Found w/E1143G and W748S in a pediatric patient w/mitochondrial encephalomyopathy, seizures, ataxia, and ophthalmological involvement		(Sofou et al., 2012) PubMed
MDS	Found in a large cohort study.		(Hikmat et al., 2020) PubMed