Skip Navigation
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.


The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Internet Explorer is no longer a supported browser.

This website may not display properly with Internet Explorer. For the best experience, please use a more recent browser such as the latest versions of Google Chrome, Microsoft Edge, and/or Mozilla Firefox. Thank you.

Your Environment. Your Health.

Human DNA Polymerase Gamma Mutation Database


All inquiries, additions to the list, and comments should be made to Bill Copeland.

To search for multiple exons, hold <Ctrl> while selecting multiple options.

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)
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)
Reference # rs2307440
to Top