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Human DNA Polymerase Gamma Mutation Database (POLG)

Human DNA polymerase is composed of two subunits, a 140 kDa catalytic subunit encoded by the POLG on chromosome 15q25, and a 55kDa accessory subunit encoded by the POLG2 gene on chromosome 17q23-24.

A number of mutations have been mapped to the gene for the catalytic subunit of DNA polymerase, POLG, and found to be associated with mitochondrial diseases.

This database lists all known mutations in the coding region of the POLG gene and describes the associated disease. This list is maintained by the Mitochondrial DNA Replication Group at NIEHS.

The nucleotide changes are numbered from the initiation Methionine codon and are based on the cDNA (accession U60325.1) and gene sequence (accession AF497906.1).

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

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Visual overview of the POLG mutations.

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

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Amino Acid Substitution: R3P
cDNA Position: 8 g→c (exon 2)
Disease Genetics Frequency Reference
PEO ar (Van Goethem et al., 2001) reported 0 out of 229 control Individuals (<0.4%) (Van Goethem et al., 2001)
PubMed
Amino Acid Substitution: G11D
cDNA Position: 32 g→a (exon 2)
Disease Genetics Frequency Reference
Ataxia Neuropathy Found in cis with R627Q and in trans with R852C, and also found as a Heterozygous mutation with a failure to thrive (Wong et al., 2008)
PubMed
Alpers Found in cis w/ R852C and in trans w/ W748S. In a second pt. found in cis w/R852C and in trans w/ A467T. (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
PubMed
Alpers Found in cis w/ R852C and in trans w/ A467T. In a 2nd pt., found in cis w/ R852C and in trans w/ W748S and E1143G (Stewart et al., 2009)
PubMed
Leigh Syndrome Found in cis with R852C and in trans with W748S (Naess et al., 2009)
PubMed
Multiple system atrophy Found with R852C 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/ R852C in an 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/ R852C 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
Amino Acid Substitution: P18S
cDNA Position: 52 t→g (exon 2)
Disease Genetics Frequency Reference
Neutral polymorphism 0.6% of 450 individuals (GeneSNPs, 2004)
PubMed
Amino Acid Substitution: S28C
cDNA Position: 82 a→t (exon 2)
Disease Genetics Frequency Reference
PEO Found in a 25 y.o. pt. that is homozygous for the W748S mutation with PEO, ataxia, ptosis, and hearing loss Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Amino Acid Substitution: R3P
cDNA Position: 8 g→c (exon 2)
DiseasePEO
Geneticsar
Frequency(Van Goethem et al., 2001) reported 0 out of 229 control Individuals (<0.4%)
Reference (Van Goethem et al., 2001)
PubMed Link: PubMed
Amino Acid Substitution: G11D
cDNA Position: 32 g→a (exon 2)
DiseaseAtaxia Neuropathy
GeneticsFound in cis with R627Q and in trans with R852C, and also found as a Heterozygous mutation with a failure to thrive
Frequency
Reference (Wong et al., 2008)
PubMed Link: PubMed
Amino Acid Substitution: P18S
cDNA Position: 52 t→g (exon 2)
DiseaseNeutral polymorphism
Genetics
Frequency0.6% of 450 individuals
Reference (GeneSNPs, 2004)
PubMed Link: PubMed
Amino Acid Substitution: S28C
cDNA Position: 82 a→t (exon 2)
DiseasePEO
GeneticsFound in a 25 y.o. pt. that is homozygous for the W748S mutation with PEO, ataxia, ptosis, and hearing loss
FrequencyFound in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies.
Reference (Tang et al., 2011)
PubMed Link: PubMed
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