EC Number   |
Protein Variants |
Reference |
|---|
   2.7.10.1 | A391E |
germ-line mutation in Crouzon syndrome with acanthosis nigricans. The transmembrane domains are able to dimerize, and mutation A391E increases the cross-linking propensities of the two domains |
721711 |
| 2.7.10.1 | A391E |
the mutation is linked to Crouzon syndrome with acanthosis nigricans and bladder cancer |
672173 |
| 2.7.10.1 | C289S |
strong ligand-triggered phosphorylation as for the wild-type DDR1. In the absence of beta-mercaptoethanol, forms dimers (250 kDa). Binds to immobilized collagen at comparable levels as the wild-type. DDR1b and C289S constructs bind to collagen-agarose beads equally well |
693042 |
| 2.7.10.1 | C303S |
no ligand-triggered phosphorylation. In the absence of beta-mercaptoethanol, does not form dimers. Has a significantly lower affinity to bind to immobilized collagen, relative to wild type DDR1. Shows no affinity to collagen-agarose beads |
693042 |
| 2.7.10.1 | C348S |
no ligand-triggered phosphorylation. In the absence of beta-mercaptoethanol, does not form dimers. Has a significantly lower affinity to bind to immobilized collagen, relative to wild type DDR1. Shows no affinity to collagen-agarose beads |
693042 |
| 2.7.10.1 | C379R |
the mutation is linked to osteoglophonic dysplasia |
672173 |
| 2.7.10.1 | C717S |
the mutant has activity comparable to that of the wild type enzyme and is poorly inhibited by the quinazolines |
738457 |
| 2.7.10.1 | D1232V |
is more active than the wild-type, produces tumors in nude mice and is highly metastatic |
690303 |
| 2.7.10.1 | D314N |
no activity |
674526 |
| 2.7.10.1 | D816F |
c-Kit mutant, in patients with aggressive mastocytosis or AML patients |
691636 |
