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: L392V cDNA Position: 1174 c→g (exon 6)
Disease	Genetics	Frequency	Reference
Neutral polymorphism	Heterozygous with muscle weakness & optic atrophy	<1 % in control populations	(Luoma et al., 2007) (Wong et al., 2008) PubMed
Alpers	Found in cis w/R1081dup and in trans w/L304R		(Cardenas et al., 2010) PubMed
MDS	Found in a large cohort study.		(Hikmat et al., 2020) PubMed