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: Q715X cDNA Position: 2143 c→t (exon 12)
Disease	Genetics	Frequency	Reference
Alpers	Found in trans w/ A467T		(Wong et al., 2008) PubMed
Encephalopathy	Found in trans w/ A467T in a 5 y.o. pt.	Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies.	(Tang et al., 2011) PubMed