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: T851A
cDNA Position: 2551 a→g (exon 16)
Disease Genetics Frequency Reference
Alpers Found in trans w/R1047W. Not found in over 100 control alleles (Wiltshire et al., 2008)
Alpers Found in trans w/H277L. (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
Opthmalplegia and seizures Found in trans w/P163S in a 21 y.o. female with peripheral neuropathy, seizures, dysarthria and bilateral ptosis 2 in 322 mitochondrial disease patients (Woodbridge et al., 2012)
Opthmalplegia and peripheral neuropathy Found in trans w/N468D in a 49 y.o. female with ptosis, lower limb weakness, sensory ataxia, gastrointestinal symptoms, and peripheral neuropathy 2 in 322 mitochondrial disease patients (Woodbridge et al., 2012)
to Top