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.

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: F1164I
cDNA Position: 3490 t→a (exon 22)
Disease Genetics Frequency Reference
PEO Ar, found in cis with T914P and in trans with Q308H Not found in 200 Italian controls (Horvath et al., 2006)
PEO Found in trans w/M1057T in a71 y.o. with Ophthalmoparesis, ptosis, depression, and muscle weakness. (Bereau et al., 2016)
to Top