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.

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: W918R
cDNA Position: 2752 t→c(exon 18)
Disease Genetics Frequency Reference
PEO with Parkinsonism ar, Compound (in trans) heterozygous with M430L Absent in 200 control alleles (Invernizzi et al., 2008)
PubMed
PEO Found in trans with M430L in a 42 y.o. male with PEO and mtDNA (Ferreira et al., 2011)
PubMed
Back
to Top