EC Number |
Protein Variants |
Reference |
---|
1.5.8.4 | H109R |
natural polymorphism identified in a dimethylglycine dehydrogenase-deficient patient. Mutant shows only 47% of the wild-type level of bound flavin, a 27fold decrease in specific activity and a 65fold increase in Km value |
699373 |
1.5.8.4 | H109R |
rare natural variant, mutation leads to decreased protein stability, cofactor saturation, and substrate affinity |
742499 |
1.5.8.4 | H109R |
rare natural variant, suffers from decreased protein stability, cofactor saturation, and substrate affinity and causes dimethylglycine dehydrogenase deficiency leading to increased blood and urinary dimethylglycine concentrations |
742499 |
1.5.8.4 | H109R |
the mutation causes dimethylglycine dehydrogenase deficiency leading to increased blood and urinary dimethylglycine concentrations |
742499 |