EC Number |
Protein Variants |
Reference |
---|
1.14.17.1 | A318S |
site-directed mutagenesis, the enzyme shows a marginal decrease in homospecific activity |
745892 |
1.14.17.1 | A318S |
the mutation does not influence enzyme activity |
728562 |
1.14.17.1 | A348E |
retained inside cell in a premature endoplasmic reticulum form, also naturally occuring mutation |
715661 |
1.14.17.1 | C1021T |
naturally occuring gene polymorphism, determination of the frequency in combat veterans with or without chronic posttraumatic stress disorder, overview |
684300 |
1.14.17.1 | D100E |
retained inside cell in a premature endoplasmic reticulum form, also naturally occuring mutation |
715661 |
1.14.17.1 | D331N |
retained inside cell in a premature endoplasmic reticulum form, also naturally occuring mutation |
715661 |
1.14.17.1 | D460N |
site-directed mutagenesis, the mutant shows reduced expression levels compared to the wild-type enzyme, the mutant shows reduced expression levels compared to the wild-type enzyme |
745892 |
1.14.17.1 | G482R |
the mutation has subsequent effect on the activity of the enzyme as it is present close to the active site |
728562 |
1.14.17.1 | L208F |
a natural variant - three phenotypes of enzyme isolated: 4 * L208-homoenzyme, 4 * F208-homoenzyme and 2 * F208, 2 * L208-heteroenzyme, no significant difference in kinetic properties |
438634 |
1.14.17.1 | L317P |
site-directed mutagenesis, the mutant shows secretory deficiency and is localized in the endoplasmic reticulum |
745892 |