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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.

To search for multiple exons, hold <Ctrl> while selecting multiple options.


Amino Acid Substitution: G737R
cDNA Position: 2209 g→c (exon 13)
Disease Genetics Frequency Reference
Epilepsy and liver failure Found as compound in trans with A767D in two family members Not found in 250 control individuals (Horvath et al., 2006) 
PubMed
Parkinsonism Parkinsonism in trans with R853W. (Davidzon et al., 2006)
PubMed
Amino Acid Substitution: G737R
cDNA Position: 2210 g→c (exon 13)
Disease Genetics Frequency Reference
Charcot-Marie Tooth disease, (CMT) (profound cerebellar ataxia) Found in trans with the S64L-R232H in CMT. Found in 2/666 (0.3%) of control alleles (Harrower et al, 2008)
PubMed
arPEO+ and Myocerebrohepatopathy (MCHS) Found in trans w/ A467T. In trans w/ E1143G-R943C in MCHS.  Also, found as a single heterozygous mutation. (Wong et al., 2008)
PubMed
PEO Found in trans with W748S. (Tzoulis, et al., 2009)
PubMed
PEO Found in trans w/ L304R in a 54 y.o. with PEO, ptosis, and muscle weakness Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ G426S in an 11 y.o. w/ seizures and an abnormal MRI Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ V855L in an 8 mo. w/ seizures, liver failure, and developmentally delayed Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Found in trans A957V in a 4 mo. No symptoms noted Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Epilepsy Found with A767D in a 1 y.o. male. Patient also had myopathy. In a study using patient fibroblasts, the cells were unable to up regulate mitochondrial biogenesis when exposed to Valproic acid. (Sitarz et al., 2014)
PubMed
Parkinsonism Found in trans with R853W in a 32 y.o. female with early signs of Parkinsonism and COX negative muscle fibers. Levodopa-responsive. (Rempe et al., 2016)
PubMed
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