Your Environment. Your Health.

Human DNA Polymerase Gamma Mutation Database

All inquiries, additions to the list, and comments should be made to Bill Copeland.

Select a Mutation:

Search Mutation List:

Select Exon(s):

Select Domain(s):

To search for multiple exons, hold <Ctrl> while selecting multiple options.

Amino Acid Substitution: R275X cDNA Position: 823 c→t (exon 3)
Disease	Genetics	Frequency	Reference
PEO and mental retardation	Found in trans w/ T251I+P587L	<0.5% in Dutch population	(Blok and van den Bosch et al., 2009) PubMed

Back
to Top