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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: A767D
cDNA Position: 2300 c→a (exon 14)
Disease Genetics Frequency Reference
Alpers Found as compound in trans with G737R Not found in 250 control individuals (Horvath et al., 2006)
Epilepsy Found with G737R in a 1 y.o. male. Patient also had myopathy. In a study using patient fibroblasts, the cells were unable to up regulate mitochondrial biogenesis when exposed to Valproic acid. (Sitarz et al., 2014)
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