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: R1146C cDNA Position: 3436 c→t (exon 21)
Disease	Genetics	Frequency	Reference
Neutral polymorphism	SNP	0.6% of 450 individuals	(GeneSNPs, 2004) PubMed
Neutral polymorphism	Found as a heterozygous mutation in a 18 y.o. male with muscle atrophy	24 patients diagnosed with mitochondrial disease and having multiple mtDNA deletions compared to 100 controls in a Spanish population.	(Gonzalez-Vioque et al., 2006) PubMed
	Reference # rs2307440		PubMed