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Human DNA Polymerase Gamma Mutation Database


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)
Alpers Found w/E1143G and W748S in a pediatric patient w/mitochondrial encephalomyopathy, seizures, ataxia, and ophthalmological involvement (Sofou et al., 2012)
MDS Found in a large cohort study. (Hikmat et al., 2020)
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