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Your Environment. Your Health.

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: N864S
cDNA Position: 2591 a→g (exon 16)
Disease Genetics Frequency Reference
PEO Found as compound with T251I-P587L Not found in 280 control chromosomes (Van Goethem et al., 2003c)
Epilepsy Found as heterozygous in trans with A1217P in a 3-year-old girl presented with severe epilepsy in the context of Borrelia infection. (Gaudó et al., 2020)
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