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: E873X cDNA Position: 2617 g→t (exon 17)
Disease	Genetics	Frequency	Reference
Alpers	Found in trans with A467T and under goes nonsense-mediated decay for mono-allelic expression of POLG	Not found in 40 alleles from non-Alpers mitochondrial disease patients	(Chan et al., 2005b) PubMed
Alpers	Found in trans with A467T	Not found in 40 alleles from non-Alpers mitochondrial disease patients	(Naviaux and Nguyen, 2004) PubMed
Alpers	Found in trans w/A467 in and 18 mo. old male w/ mtDNA depletion		(Ashley et al., 2008) and a correction in (Ashley et al., 2009) PubMed