All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: L428P
cDNA Position: 1283 t→c (exon 7)
|Alpers||Found as a heterozygote w/ A467T.||Sarzi et al. 2007 reported 2% (n=50) of patients with multiple respiratory chain deficiency with a 35% decrease of mtDNA were found with the mutation L428P. 19% (9 out of 50) had various mutations in POLG.||(Sarzi et al. 2007)