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.

National Institute of Environmental Health Sciences

Use this QR code to view the newest version of this document
Use this QR code to view the newest version of this document

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: R627W
cDNA Position: 1879 c→t (exon 10)
Disease Genetics Frequency Reference
PEO Found in trans w/A467T in a 39 y.o. male whose unaffected parents are hets for each mutation. Van Goethem, 2003: absent in 612 Belgian controls. (Van Goethem et al., 2003a) 
PubMed
PEO Found in trans w/ A467T in 2 PEO patients w/ hearing loss Not found in 250 control individuals (Horvath et al., 2006)
PubMed
Alpers Found in trans w/T914P (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
PubMed
Epilepsy Found in compound with W748S in teenage sisters with epilepsy, encephalitis with mitochondrial abnormalities affecting neurons (Nolte et al., 2013)
PubMed
Encephalopathy, Seizure, Stroke Found as homozygous in three unrelated South Asian probands with mitochondrial encephalopathy, seizures and stroke-like episodes. (Paramasivam et al., 2019)
PubMed
Back
to Top