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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: G380D
cDNA Position: 1139 g→a (exon 5)
Disease Genetics Frequency Reference
PEO Sporadic mutation found in trans with A467T Not found in 300 healthy French control chromosomes (Naimi et al., 2006)
PEO Found in compound with A467T in a 63 yo male with cerebellar ataxia, weakness of lower limbs and cognitive impairment Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
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