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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: H110Y cDNA Position: 328 c→t (exon 2)
Disease	Genetics	Frequency	Reference
PEO	Found as a heterozygous mutation in a and Complex I deficiency in a child from South India		(Sonam et al., 2017) PubMed
	Heterozygous, hypotonia, failure to thrive, short stature, respiratory failure		(Wong et al., 2008) PubMed

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Last Reviewed: December 05, 2024