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: Q879H cDNA Position: 2637 g→t (exon 17)
Disease	Genetics	Frequency	Reference
Liver failure and encephalopathy	Found in cis with E1143G and in trans with A467T-T885S	Not found in 250 control individuals	(Horvath et al., 2006) PubMed
Alpers w/ valproate-induced hepatic failure	Found in cis with E1143G and in trans with A467T-T885S in a 2 y.o. male		(McFarland et al., 2009) PubMed