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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: 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)
PEO Found in compound w/with T251I/P587L (Lamantea and Zeviani, 2004)
Epilepsy Found in a cross-sectional study of 22676 genetic variants associated with epilepsy (SoRelle et al., 2020)
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