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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: E873X
cDNA Position: 2617 g→t (exon 17)
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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 |