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Human DNA Polymerase Gamma Mutation Database


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

To search for multiple exons, hold <Ctrl> while selecting multiple options.

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)
Heterozygous, hypotonia, failure to thrive, short stature, respiratory failure (Wong et al., 2008)
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