Skip Navigation

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: G431V
cDNA Position: 1292 g→t (exon 7)
Disease Genetics Frequency Reference
PEO Sporadic / unknown Compound with L424 CT deletion 7 out of 27patients w/sporadic PEO compared to 250 controls individuals had a mutation in POLG (Agostino et al., 2003)
to Top