EC Number |
Protein Variants |
Reference |
---|
3.4.21.41 | C309W |
the mutation is associated with periodontal Ehlers-Danlos syndrome |
752432 |
3.4.21.41 | C338R |
the mutation is associated with periodontal Ehlers-Danlos syndrome |
752432 |
3.4.21.41 | C358F |
the mutation is associated with periodontal Ehlers-Danlos syndrome |
752432 |
3.4.21.41 | C371W |
the mutation is associated with periodontal Ehlers-Danlos syndrome |
752432 |
3.4.21.41 | D290G |
the mutation is associated with periodontal Ehlers-Danlos syndrome |
752432 |
3.4.21.41 | G297D |
the mutation is associated with periodontal Ehlers-Danlos syndrome |
752432 |
3.4.21.41 | I306-C309del |
the deletion mutations are associated with periodontal Ehlers-Danlos syndrome |
752432 |
3.4.21.41 | L300P |
the mutation is associated with periodontal Ehlers-Danlos syndrome |
752432 |
3.4.21.41 | more |
by the point mutation of C1r - Arg-Phe - of the natural cleavage site Arg-Ile - the zymogen is stabilized, while the biological activity is not affected |
81401 |
3.4.21.41 | R301P |
the mutation is associated with periodontal Ehlers-Danlos syndrome |
752432 |