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Results 1 - 10 of 47 > >>
EC Number Protein Variants Commentary Reference
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22D79G naturally occurring mutation, recombinant enzyme shows 32.8% of the wild-type activity, mutation is associated with the juvenile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor 651450
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22E184K naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with the infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor 651450
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22G250V naturally occurring mutation, recombinant enzyme shows 5.9% of the wild-type activity, mutation is associated with the juvenile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor 651450
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22G42E naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with the infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor 651450
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22H39Q naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with the infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor 651450
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22more several naturally occurring mutations of alleles 1 and 2 from enzyme deficient patients shows reduced activity compred with the wild-type, overview 651450
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22Q177E naturally occurring mutation, recombinant enzyme shows 7.3% of the wild-type activity, mutation is associated with the late infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor 651450
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22R122W naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with the infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor, accumulation of the recombinant mutant enzyme in the endoplamic reticulum due to decreased degradation turnover 651450
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22T75P naturally occurring mutation, recombinant enzyme shows 6.8% of the wild-type activity, mutation is associated with the juvenile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor 651450
Show all pathways known for 3.1.2.22Display the word mapDisplay the reaction diagram Show all sequences 3.1.2.22V181M naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with the infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor 651450
Results 1 - 10 of 47 > >>