Fig. 2

The KERA mutations associated with cornea plana. a. Schematic representation of the KERA gene and b. the predicted protein, including the positions of the disease causing mutations identified until now. The p.(Ile225Thr) missense mutation, identified in this study, changes an isoleucine (Ile, I) to a threonine (Thr, T) at amino acid position 225 (shown in bold). Seven out of nine mutations, including the p.(Ile225Thr) mutation, are predicted to affect the leucine-rich repeat region, LRR. c. Alignment of the leucine rich repeat domains show the 11 consensus motifs LXXLXLXXNXL (shaded with gray) and the positions of the five missense mutations p.(Ile107Arg), p.(Asn131Asp), p.(Thr215Lys), p.(Ile225Thr) and p.(Asn247Ser) that are underlined (I,N, T, I, and N, respectively). d. The transverse section of the protein model through the solenoid has been made around the 7th repeat and amino acids Thr215 (T215), Ile225 (I225) and Asn247 (N247) is indicated. The mutations leading to substitution of these aminoacids are shown in 2B. e. A side view of the structure shows the hydrogen bonding network of the asparagines which form the Asn-ladder. The structure is made from homology modelling and the side chain rotamers may be different in the human protein. The dotted lines show the hydrogen bonds