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Human DNA Polymerase Gamma Mutation Database


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: K1191N
cDNA Position: 3573 g→t (exon 22)
Disease Genetics Frequency Reference
Alpers Compound in trans with A467T Not found in 250 control individuals (Horvath et al., 2006)
PEO Found in trans w/ T251I and P587L in a 39 y.o. w/ PEO, neuropathy, ptosis, and muscle weakness Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
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