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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.

Alignment Document  (132 KB)
Download larger view. (879 KB)

diagram of POLG mutations

Visual overview of the POLG mutations.

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

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Amino Acid Substitution cDNA position Disease Details
R3P 8 g→c (exon 2) PEO

Genetics: ar

Frequency: (Van Goethem et al., 2001) reported 0 out of 229 control Individuals (<0.4%)

Reference: (Van Goethem et al., 2001)

Pubmed Link: PubMed

G11D 32 g→a (exon 2) Ataxia Neuropathy

Genetics: Found 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

Alpers

Genetics: Found in cis w/ R852C and in trans w/ W748S. In a second pt. found in cis w/R852C and in trans w/ A467T.

Frequency:

Reference: (Ashley et al., 2008) and a correction in (Ashley et al., 2009)

Pubmed Link: PubMed

Alpers

Genetics: 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

Frequency:

Reference: (Stewart et al., 2009)

Pubmed Link: PubMed

Leigh Syndrome

Genetics: Found in cis with R852C and in trans with W748S

Frequency:

Reference: (Naess et al., 2009)

Pubmed Link: PubMed

Multiple system atrophy

Genetics: Found with R852C in a 58 y.o. female with progressive cerebellar atrophy. Pt. had mtDNA deletions and mtDNA depletion.

Frequency:

Reference: (Mehta et al., 2011)

Pubmed Link: PubMed

Seizures and liver failure

Genetics: Found in trans w/ A467T and in cis w/ R852C in an 8 mo. w/ seizures, liver failure, and lactic acidosis.

Frequency: Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies.

Reference: (Tang et al., 2011)

Pubmed Link: PubMed

Encephalopathy

Genetics: Found in cis w/ R852C and in trans w/ R627Q in a 25 y.o. w/ dementia, encephalopathy, and stroke.

Frequency: Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies.

Reference: (Tang et al., 2011)

Pubmed Link: PubMed

P18S 52 t→g (exon 2) Neutral polymorphism

Genetics:

Frequency: 0.6% of 450 individuals

Reference: (GeneSNPs, 2004)

Pubmed Link: PubMed

S28C 82 a→t (exon 2) PEO

Genetics: Found in a 25 y.o. pt. that is homozygous for the W748S mutation with PEO, ataxia, ptosis, and hearing loss

Frequency: Found 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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