EC Number   |
Protein Variants  |
Reference |
|---|
   3.4.21.41 | R401-Y405del |
the deletion mutations are associated with periodontal Ehlers-Danlos syndrome |
752432 |
| 3.4.21.41 | R446Q |
stabilized in the single-chain proenzyme form by mutation at the cleavage site, no esterolytic activity with acetyl-Gly-Lys-methyl ester |
652176 |
| 3.4.21.41 | R463X |
construction of a stable zymogen by mutating the Arg463Ile bond shows that one active C1r in the C1 complex is sufficient for the full activity of the entire complex |
81391 |
| 3.4.21.41 | R463X |
the mutants of the proenzyme Arg463Lys,Ile464Phe have increased stability, they retain their ability to autoactivate and have wild-type like hemolytic activity |
81405 |
| 3.4.21.41 | R463X |
the mutations Arg463Gln, Arg463Lys or Arg463Phe all stabilize the zymogen state |
81392 |
| 3.4.21.41 | S637A |
stabilized in the single-chain proenzyme form by mutation at the active site serine residue, no esterolytic activity with acetyl-Gly-Lys-methyl ester |
652176 |
| 3.4.21.41 | S654A |
mutant without autoactivation |
652680 |
| 3.4.21.41 | V50D |
the mutation is associated with periodontal Ehlers-Danlos syndrome |
752432 |
| 3.4.21.41 | W364C |
the mutation is associated with periodontal Ehlers-Danlos syndrome |
752432 |
| 3.4.21.41 | W435R |
the mutation is associated with periodontal Ehlers-Danlos syndrome |
752432 |
