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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: W918R
cDNA Position: 2752 t→c(exon 18)
Disease Genetics Frequency Reference
PEO with Parkinsonism ar, Compound (in trans) heterozygous with M430L Absent in 200 control alleles (Invernizzi et al., 2008)
PEO Found in trans with M430L in a 42 y.o. male with PEO and mtDNA (Ferreira et al., 2011)
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