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: R374X cDNA Position: 1120 c→t (STOP) (exon 5)
Disease	Genetics	Frequency	Reference
Alpers	Found in trans w/A467T.		(Ashley et al., 2008) and a correction in (Ashley et al., 2009) PubMed

Back
to Top