EC Number   |
Protein Variants |
Reference |
|---|
   3.4.21.27 | R37Q |
fXIa-R37Q mutant |
691011 |
| 3.4.21.27 | S225F |
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 |
707856 |
| 3.4.21.27 | S248A |
binds platelets with reduced affinity compared with wild-type |
707856 |
| 3.4.21.27 | S248N |
binds platelets with 5fold reduced affinity compared with wild-type, the A3 domain is probably not affected significantly, as FXI-Asn248 is secreted, activated by activated factor XII, and activates FIX similar to wild-type activated factor IX. Is associated with bleeding and defective FXI binding to platelets but does not affect the activated partial thromboplastin time assay, which does not contain platelets |
707856 |
| 3.4.21.27 | S248Q |
binds platelets with reduced affinity compared with wild-type |
707856 |
| 3.4.21.27 | S434A/K437A/T475A/C482S |
to improve crystallizability a quadrupole mutant is generated |
693547 |
| 3.4.21.27 | S434A/T475A/C482S/K437A |
site-directed mutagenesis, crystal structure determination with bound benzylamidine |
683756 |
| 3.4.21.27 | T575M |
site-directed mutagenesis, missense mutation identified from large scale screening, the mutant enzyme is normally secreted from the transfected cell, but shows negligible factor IX activation activity |
684078 |
| 3.4.21.27 | W569S |
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 |
707856 |
| 3.4.21.27 | Y133S |
site-directed mutagenesis, missense mutation identified from large scale screening, the mutant enzyme is not secreted from the transfected cell resulting in a cross-reactive material negative phenotype |
684078 |
