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: M1163R
cDNA Position: 3488 t→g (exon 22)
Disease Genetics Frequency Reference
Liver failure, encephalopathy, and epilepsy Found as compound in trans with W748S - E1143G Not found in 200 control alleles (Kollberg et al., 2006)
PubMed
Alpers Found w/E1143G and W748S in a pediatric patient w/mitochondrial encephalomyopathy, seizures, ataxia, and ophthalmological involvement (Sofou et al., 2012)
PubMed
MDS Found in a large cohort study. (Hikmat et al., 2020)
PubMed
Back
to Top