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Your Environment. Your Health.

Human DNA Polymerase Gamma Mutation Database

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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: R852C
cDNA Position: 2554 c→t (exon 16)
Disease Genetics Frequency Reference
Alpers Compound with A467T Not found in 300 control chromosomes (Nguyen et al., 2006)
PubMed
Ataxia Neuropathy Found in trans w/ G11D-R627Q (Wong et al., 2008)
PubMed
Alpers Found in cis w/G11D and in trans w/W748S, and in a 2nd pt. found in cis w/G11D and in trans w/A467T. (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
PubMed
Alpers Found in cis w/G11D and in trans w/ A467T. In a 2nd pt., found in cis w/G11D and in trans w/ W748S and E1143G. (Stewart et al., 2009)
PubMed
Leigh Syndrome Found in cis with G11D and in trans with W748S (Naess, et al., 2009)
PubMed
Multiple system atrophy Found with G11D in a 58 y.o. female with progressive cerebellar atrophy. Pt. had mtDNA deletions and mtDNA depletion. (Mehta et al., 2011)
PubMed
Seizures and liver failure Found in trans w/ A467T and in cis w/ G11D in a 8 mo. w/ seizures, liver failure, and lactic acidosis. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Encephalopathy Found in cis w/ G11D and in trans w/ R627Q in a 25 y.o. w/ dementia, encephalopathy, and stroke. 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 5 y.o. w/seizures, ataxia, and developmentally delayed (Hunter et al., 2011)
PubMed
Alpers Found in trans w/A467T in a 21 mo. old female with blindness, anarthria, hypotonia, and epilepsy (McCoy et al., 2011)
PubMed
Alpers and PEO Found in trans with W748S in a pediatric female patient with hypotonia, developmental delay, ataxia, and seizures (Vasta et al., 2012)
PubMed
SANO (Sensory Ataxic Neuropathy and Ophthalmoparesis) Found in cis w/P587L and T251I in a 50 y.o. with PEO, muscle weakness, and polyneuropathy. Similar to SANDO, but no dysarthria. (Bereau et al., 2016)
PubMed
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