A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia

Figure 3

COMP mutations that occurred at the T3 repeats domain were identified in PSACH and MED patients. COMP has the NH₂-terminus on the left and the COOH-terminus on the right. Known functional domains include an amino-terminal coiled-coil oligomerization domain (Coiled-coil), four type II epidermal growth factor-like repeats (EGF-like), eight type 3 calmodulin-like repeats (CLRs/T3 repeats), and a globular carboxyl terminal domain (CTD). Arrows show the approximate location of COMP mutations. The red words representing the present mutation. Asterisks represent these mutations were reported in MED cases, and others were identified in PSACH patients.