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Human DNA Polymerase Gamma Mutation Database

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All inquiries, additions to the list, and comments should be made to Bill Copeland.

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Amino Acid Substitution: S305R
cDNA Position: 915 c→g (exon 4)
Disease Genetics Frequency Reference
Alpers heterozygous (Wong et al., 2008)
PubMed
Alpers Found in trans w/A467T <0.5% in Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Alpers Found as a compound heterozygote w/P1073L. (Baruffini et al., 2011)
PubMed
Epilepsy and ataxia-neuropathy Heterozygous mutation w/R627Q found in a 5 y.o. pt. w/epilepsy at age 5, and developed ataxia and neuropathy in his teens. (Baruffini et al., 2011)
PubMed
Liver Failure Found in trans w/ A467T in a 1 y.o. with liver failure Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Alpers Found in trans w/A467T in a 3 y.o. w/seizures and developmentally delayed (Hunter et al., 2011)
PubMed
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