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: A957S
cDNA Position: 2869 g→t (exon 18)
Disease Genetics Frequency Reference
PEO Found as both a heterozygous and as a homozygous mutation in one individual in two Sicilian families. Lamantea, 2002: Not found in a control group of 100 DNA samples from unrelated Italians (Lamantea et al., 2002)
PEO ad PEO. Studied the pathological and biochemical consequences of several PEO mutations by modeling the amino acid changes and structure pol _. In order to correlate mutation and disease severity. (Graziewicz et al., 2004)
PEO Demonstrate that S. cerevisiae provides a useful in vivo system for quickly evaluating the biological consequences of identified, or suspected, PEO mutation loci. (Stuart et al., 2006)
to Top