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<< < Results 101 - 110 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 5.1.3.14R8X a naturally occuring nonsense mutation in exon 2 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 5.1.3.14S615X a naturally occuring nonsense 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 5.1.3.14V216A 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 5.1.3.14V216A/A631V V216A/A631V (GNE/MNK domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 48% of wild-type, N-acetylmannosamine kinase activity is 63% of wild-type 661840
Show all pathways known for 5.1.3.14Display the word mapDisplay the reaction diagram Show all sequences 5.1.3.14V331A 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 5.1.3.14V331A 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 5.1.3.14V367I 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 5.1.3.14V572L 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 5.1.3.14V696M a naturally occuring missense mutation in exon 12 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 5.1.3.14V696M naturally occuring missense mutation G2086A involved in hereditary inclusion body myopathy, phenotype, overview 703285
<< < Results 101 - 110 of 113 > >>