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Human DNA Polymerase Gamma Mutation Database

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All inquiries, additions to the list, and comments should be made to Bill Copeland.

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Amino Acid Substitution: G268A
cDNA Position: 803 g→c (exon 3)
Disease Genetics Frequency Reference
PEO Sporadic / unknown Found as compound in trans with A467T Di Fonzo 2003: Not found in 100 DNA samples from healthy Italians  (Di Fonzo et al., 2003)
PubMed
PEO Sporadic / unknown Found as compound in trans with A467T (Del Bo et al., 2003)
PubMed
PEO Sporadic / unknown Found as compound in trans with A467T (Baruffini et al., 2006)
PubMed
PEO Sporadic / unknown Found as compound in trans with A467T 24 patients diagnosed with mitochondrial disease and having multiple mtDNA deletions compared to 100 controls in a Spanish population. (Gonzalez - Vioque et al., 2006)
PubMed
Parkinsonism, dystonia, mental retardation, hepatocerebral syndrome, ptosis, neuropathy, and intestinal problems ar, 3 patients ages 3-16 yrs <0.5% in Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Reference # rs61752784
PubMed
MDS Found in a large cohort study. (Hikmat et al., 2020)
PubMed
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Last Reviewed: December 05, 2024