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Results 1 - 10 of 106 > >>
EC Number
Amino acid exchange
Commentary
Reference
A630T
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
A631V
a naturally occuring missense mutation in exon 11 of the GNE gene of a patient with hereditary inclusion body myopathy
C13S
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
C13S
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
C303V
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
C303V
exhibited almost no reduction in epimerase activity
C303X
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
C303X
the C303X protein does not display any enzymatic activity
D100N
no conversion of UDP-N-acetyl-D-glucosamine to UDP + N-acetyl-D-mannosamine
D131N
no conversion of UDP-N-acetyl-D-glucosamine to UDP + N-acetyl-D-mannosamine, acetamidoglucal is released from the active site during catalysis
Results 1 - 10 of 106 > >>