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Results 1 - 10 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 5.1.3.14A630T 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 5.1.3.14A631V a naturally occuring missense mutation in exon 11 of the GNE gene of a patient with hereditary inclusion body myopathy 703865
Show all pathways known for 5.1.3.14Display the word mapDisplay the reaction diagram Show all sequences 5.1.3.14C13S a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme 703912
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 5.1.3.14C303V a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme 703912
Show all pathways known for 5.1.3.14Display the word mapDisplay the reaction diagram Show all sequences 5.1.3.14C303V exhibited almost no reduction in epimerase activity 672131
Show all pathways known for 5.1.3.14Display the word mapDisplay the reaction diagram Show all sequences 5.1.3.14C303X a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme 703912
Show all pathways known for 5.1.3.14Display the word mapDisplay the reaction diagram Show all sequences 5.1.3.14C303X the C303X protein does not display any enzymatic activity 672131
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
Show all pathways known for 5.1.3.14Display the word mapDisplay the reaction diagram Show all sequences 5.1.3.14D131N no conversion of UDP-N-acetyl-D-glucosamine to UDP + N-acetyl-D-mannosamine, acetamidoglucal is released from the active site during catalysis -, 661102
Results 1 - 10 of 113 > >>