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: S1176L cDNA Position: 3527 c→t (exon 22)
Disease	Genetics	Frequency	Reference
PEO	Found as a heterozygous mutation	Lamantea, 2002: Not found in a control group of 100 DNA samples from unrelated Italians	(Lamantea et al., 2002) PubMed
PEO	Found in compound w/with T251I/P587L		(Lamantea and Zeviani, 2004) PubMed
Epilepsy	Found in a cross-sectional study of 22676 genetic variants associated with epilepsy		(SoRelle et al., 2020) PubMed