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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: R227P
cDNA Position: 680 g→c (exon 3)
Disease Genetics Frequency Reference
Severe childhood multi-system disorder Compound heterozygous with A467T de Vries et al. , 2007 identified 1 (4.76%) children out of 21 with a POLG mutation that were known to have a mitochondrial disorder (de Vries et al., 2007)
PubMed
Epilepsy and failure to thrive Found in trans w/ A467T <0.5% in Dutch population (Blok and van den Bosch et al., 2009)
PubMed
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