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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: R953C
cDNA Position: 2857 c→t (exon 18)
Disease Genetics Frequency Reference
PEO ad Luoma, 2004: None noted in screening of 1640 healthy Finnish control chromosomes. (Luoma et al., 2004)
PubMed
Reference # rs11546842
PubMed
PEO Found in trans w/ W748S in a 51 y.o. w/ peripheral neuropathy, ptosis, hypotonia, ataxia, and seizures. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
PEO Autosomal recessive PEO, found as a homozygous mutation in 3 affected siblings and heterozygous in 2 asymptomatic siblings from the same family. One unaffected sibling had no POLG mutations. Symptoms started in early 20's of the 3 affected siblings whic (Gurgel-Giannetti et al., 2012)
PubMed
MNGIE-like Found in compound with W748S in a 50y.o. male with cognitive impairment, muscle weakness, diarrhea, vomiting, ptosis, and opthalmoparesis. (Tang et al., 2012)
PubMed
MItochondrial toxicity Found as a heterozygous mutation in a HIV positive patient with mitochondrial toxicity (Li et al., 2016)
PubMed
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