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.

Https

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

Search

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: G268A
cDNA Position: 803 g→c (exon 3)
Disease Genetics Frequency Reference
PEO Sporadic / unknown Found as compound in trans with A467T Di Fonzo 2003: Not found in 100 DNA samples from healthy Italians  (Di Fonzo et al., 2003)
PubMed
PEO Sporadic / unknown Found as compound in trans with A467T (Del Bo et al., 2003)
PubMed
PEO Sporadic / unknown Found as compound in trans with A467T (Baruffini et al., 2006)
PubMed
PEO Sporadic / unknown Found as compound in trans with A467T 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
Parkinsonism, dystonia, mental retardation, hepatocerebral syndrome, ptosis, neuropathy, and intestinal problems ar, 3 patients ages 3-16 yrs <0.5% in Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Reference # rs61752784
PubMed
Back
to Top