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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: A889T
cDNA Position: 2665 g→a (exon 17)
Disease Genetics Frequency Reference
PEO Sporadic / unknown Compound with R579W Compound with E1143G Filosto, 2003: not detected in 120 healthy control alleles (Filosto et al., 2003)
PubMed
PEO Sporadic / unknown Compound with R579W Compound with E1143G (Hisama et al., 2005)
PubMed
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