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Results 1 - 10 of 60 > >>
EC Number
Amino acid exchange
Commentary
Reference
C362S/C482S
site-directed mutagenesis
C362S/C482S
site-directed mutagenesis, the mutant shows increased platelet binding compared to the wild-type enzyme
C398Y
exhibits a dominant negative effect when coexpressed with wild-type FXI and is associated with FXI deficiency that may be inherited in a dominant manner
C500S
inactive
E98A
the mutant has normal Km and kcat values for L-pyroGlu-L-Pro-L-Arg-4-nitroanilide hydrolysis, the mutant has deficient kcat values for factor IX hydrolysis, and is inhibited by protease nexin 2 with normal value of Ki
E98D
the mutant has normal Km and decreased kcat values for L-pyroGlu-L-Pro-L-Arg-4-nitroanilide hydrolysis, the mutant has deficient kcat values for factor IX hydrolysis
E98V
the mutant has increased Km and decreased kcat values for L-pyroGlu-L-Pro-L-Arg-4-nitroanilide hydrolysis, the mutant has deficient kcat values for factor IX hydrolysis
FXI/G326C
mutant of FXI with Gly326 residue mutated to Cys326
G104R
this mutation in the PK A2 domain associated with CRM+ PK deficiency causes decreased kininogen binding
G155E
is a rare example of a mutation causing CRM+ FXI deficieny
Results 1 - 10 of 60 > >>