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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: R943H
cDNA Position: 2828 g→a (exon 18)
Disease Genetics Frequency Reference
PEO ad PEO. Found in 2 siblings as a homozygous mutation Lamantea, 2002: Not found in a control group of 100 DNA samples from unrelated Italians (Lamantea et al., 2002)
PubMed
PEO ad PEO. Studied the pathological and biochemical consequences of several PEO mutations by modeling the amino acid changes and structure pol _. In order to correlate mutation and disease severity. (Graziewicz et al., 2004)
PubMed
PEO Demonstrate that S. cerevisiae provides a useful in vivo system for quickly evaluating the biological consequences of identified, or suspected, PEO mutation loci. (Stuart et al., 2006)
PubMed
Premature ovarian failure Ad, and premature ovarian failure <0.5% in Dutch population (Blok and van den Bosch et al., 2009)
PubMed
PEO and Parkinsonism Found as a heterozygous mutation in a 63 y.o. male with PEO, resting tremors, dysarthria, and poly neuropathy, fatigue, hearing lass, and Parkinsonism (Brandon et al., 2013)
PubMed
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