Table 5 FBN1 mutations identified in individuals with MFS that have been shown to increase susceptibility to in vitro proteolysis.
| Mutation | Location | Reference |
|---|---|---|
| N548I | cbEGF4 | Reinhardt et al217 |
| R627C | cbEGF6 | Vollbrandt et al214 |
| C750G | cbEGF7 | Vollbrandt et al214 |
| E1073K | cbEGF12 | Reinhardt et al217 |
| G1127S | cbEGF13 | Whiteman et al216 |
| K1300E | cbEGF17 | Booms et al228 |
| C1320S | cbEGF17 | Booms et al228 |
| D1406G | cbEGF20 | Robinson and Booms229 |
| C1408F | cbEGF20 | Robinson and Booms229 |
| C1977R | cbEGF30 | Suk et al212 |
| C1977Y | cbEGF30 | Suk et al212 |
| N2183S | cbEGF33 | McGettrick et al210 |
The predicted amino acid change and the affected cbEGF modules are shown. Note that N2183S is a protein‐engineered mutation and has not been found in patients.