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: G746S cDNA Position: 2236 g→a (exon 13)
Disease	Genetics	Frequency	Reference
Ataxia, PEO	ar, Found in cis w/ E1143G, and in trans G848S	1in 454 alleles	(Stewart et al., 2009) PubMed
PEO	Found in trans w/G848S in a 36 y.o. male with PEO, peripheral neuropathy, and ataxia		(Lax et al., 2012a) PubMed