Human DNA Polymerase Gamma Mutation Database

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

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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