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Human DNA Polymerase Gamma Mutation Database

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

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Amino Acid Substitution: W235X cDNA Position: 705 g→a (exon 3)
Disease	Genetics	Frequency	Reference
Severe childhood multi-system disorder	Found as compound heterozygote 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

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Last Reviewed: December 05, 2024