EC Number   |
Protein Variants |
Reference |
|---|
   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 | S248A |
binds platelets with reduced affinity compared with wild-type |
707856 |
| 3.4.21.27 | S248Q |
binds platelets with reduced affinity compared with wild-type |
707856 |
| 3.4.21.27 | K170A/R171A/R173A |
catalytic domain with residues 170, 171, and 173 changed to alanine is designated CD-KRR/A |
691011 |
| 3.4.21.27 | more |
chimeric recombinant enzyme mutants rFXI-PKA3 and rFXIa-PKA3, with fusion of FXI to the Apple 3 domain of prekallikrein, show unaffected platelet binding compared to the wild-type enzyme, overview |
683160 |
| 3.4.21.27 | more |
construction of FXI with a single catalytic active site, construction of recombinant FXI with the A4 domain replaced by the A4 domain from plasma prekallikrein, i.e. FXI/PKA4, overview |
683682 |
| 3.4.21.27 | R144A/K145A/R147A/R149A |
contains Ala substitutions for Arg-144, Lys-145, Arg-147, and Arg-149 (residues 504, 505, 507, and 509, respectively, in fXI numbering) |
691011 |
| 3.4.21.27 | 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 |
707856 |
| 3.4.21.27 | G400V |
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 | 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 |
