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: P1073L
cDNA Position: 3218 c→t (exon 20)
Disease Genetics Frequency Reference
Hepatocerebral - Alpers symptoms Found in trans w/A467T in 2 pt., in trans w/ W748S in 1 pt., and in trans with G848S in 1 pt. Psychomotor delay, seizures, liver delay, and gastrointestinal dysmotility. (Kurt et al., 2010)
PubMed
Alpers Found as a compound heterozygote w/ S305R in a 9 mo. pt. w/ Alpers (Baruffini et al., 2011)
PubMed
Failure to thrive Found in trans w/ G848S in a 2 y.o. w/ hypotonia, and gastro-esophageal reflux. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Myopathy Found as a heterozygous mutation in a 5 yo female with epilepsy, myopathy, and tubulopathy Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
Back
to Top