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<< < Results 91 - 100 of 113 > >>
EC Number Protein Variants Commentary Reference
Show all pathways known for 5.1.3.14Display the word mapDisplay the reaction diagram Show all sequences 5.1.3.14V572L mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to 70-80% of wild-type activity 662186
Show all pathways known for 5.1.3.14Display the word mapDisplay the reaction diagram Show all sequences 5.1.3.14C13S mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type 662186
Show all pathways known for 5.1.3.14Display the word mapDisplay the reaction diagram Show all sequences 5.1.3.14D176V mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type 662186
Show all pathways known for 5.1.3.14Display the word mapDisplay the reaction diagram Show all sequences 5.1.3.14D177C mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type 662186
Show all pathways known for 5.1.3.14Display the word mapDisplay the reaction diagram Show all sequences 5.1.3.14D378Y mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type 662186
Show all pathways known for 5.1.3.14Display the word mapDisplay the reaction diagram Show all sequences 5.1.3.14H132Q mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type 662186
Show all pathways known for 5.1.3.14Display the word mapDisplay the reaction diagram Show all sequences 5.1.3.14V331A mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type 662186
Show all pathways known for 5.1.3.14Display the word mapDisplay the reaction diagram Show all sequences 5.1.3.14G135V/R246W mutation in patients with hereditary inclusion body myopathy: G135V/R246W (GNE/GNE domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 38% of wild-type, N-acetylmannosamine kinase activity is 72% of wild-type 661840
Show all pathways known for 5.1.3.14Display the word mapDisplay the reaction diagram Show all sequences 5.1.3.14V696M naturally occuring missense mutation G2086A involved in hereditary inclusion body myopathy, phenotype, overview 703285
Show all pathways known for 5.1.3.14Display the word mapDisplay the reaction diagram Show all sequences 5.1.3.14D100N no conversion of UDP-N-acetyl-D-glucosamine to UDP + N-acetyl-D-mannosamine -, 661102
<< < Results 91 - 100 of 113 > >>