Skip Navigation

Human DNA Polymerase Gamma Mutation Database

Search

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: E873X
cDNA Position: 2617 g→t (exon 17)
Disease Genetics Frequency Reference
Alpers Found in trans with A467T and under goes nonsense-mediated decay for mono-allelic expression of POLG Not found in 40 alleles from non-Alpers mitochondrial disease patients (Chan et al., 2005b)
PubMed
Alpers Found in trans with A467T Not found in 40 alleles from non-Alpers mitochondrial disease patients (Naviaux and Nguyen, 2004)
PubMed
Alpers Found in trans w/A467 in and 18 mo. old male w/ mtDNA depletion (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
PubMed
Back
to Top
Last Reviewed: October 17, 2024