Figure 3.

The schematic presentation of the CTSK gene and protein: The genomic structure of the CTSK gene with 8 exons in the top half and the polypeptide comprising a 15-amino acid preregion, a 99-residue proregion, and a 215-amino acid mature domain in the bottom half. A total of 33 reported mutations are shown on gene schema on the upper panel, mutation given in thick frames are hot spot mutations, mutation detected herein with red letters and another mutation detected in Turkish families in black letters are shown on the lower panel.