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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: T851A
cDNA Position: 2551 a→g (exon 16)
Disease Genetics Frequency Reference
Alpers Found in trans w/R1047W. Not found in over 100 control alleles (Wiltshire et al., 2008)
PubMed
Alpers Found in trans w/H277L. (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
PubMed
Opthmalplegia and seizures Found in trans w/P163S in a 21 y.o. female with peripheral neuropathy, seizures, dysarthria and bilateral ptosis 2 in 322 mitochondrial disease patients (Woodbridge et al., 2012)
PubMed
Opthmalplegia and peripheral neuropathy Found in trans w/N468D in a 49 y.o. female with ptosis, lower limb weakness, sensory ataxia, gastrointestinal symptoms, and peripheral neuropathy 2 in 322 mitochondrial disease patients (Woodbridge et al., 2012)
PubMed
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