Human DNA Polymerase Gamma Mutation Database

Search

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: F1164I cDNA Position: 3490 t→a (exon 22)
Disease	Genetics	Frequency	Reference
PEO	Ar, found in cis with T914P and in trans with Q308H	Not found in 200 Italian controls	(Horvath et al., 2006) PubMed
PEO	Found in trans w/M1057T in a71 y.o. with Ophthalmoparesis, ptosis, depression, and muscle weakness.		(Bereau et al., 2016) PubMed