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Results 1 - 4 of 4
EC Number Protein Variants Commentary Reference
Show all pathways known for 1.5.8.4Display the word mapDisplay the reaction diagram Show all sequences 1.5.8.4H109R 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
Show all pathways known for 1.5.8.4Display the word mapDisplay the reaction diagram Show all sequences 1.5.8.4H109R rare natural variant, mutation leads to decreased protein stability, cofactor saturation, and substrate affinity 742499
Show all pathways known for 1.5.8.4Display the word mapDisplay the reaction diagram Show all sequences 1.5.8.4H109R 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
Show all pathways known for 1.5.8.4Display the word mapDisplay the reaction diagram Show all sequences 1.5.8.4H109R the mutation causes dimethylglycine dehydrogenase deficiency leading to increased blood and urinary dimethylglycine concentrations 742499
Results 1 - 4 of 4