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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: G746S
cDNA Position: 2236 g→a (exon 13)
Disease Genetics Frequency Reference
Ataxia, PEO ar, Found in cis w/ E1143G, and in trans G848S 1in 454 alleles (Stewart et al., 2009)
PEO Found in trans w/G848S in a 36 y.o. male with PEO, peripheral neuropathy, and ataxia (Lax et al., 2012a)
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