Fig. 1.

Schematic representation of C5orf42 protein structure and distribution of all reported mutations. The two predicted transmembrane domains (TM, amino acids 592–612 and 631–651) and the two predicted coiled coil domains (CCD, amino acids 2,457–2,487 and 2,691–2,724) are shown. Mutations found in patients with pure Joubert syndrome and with OFDVI are presented in the upper and lower parts of the figure, respectively. Mutations identified in the present study are in bold. In brackets are the numbers of patients in whom each mutation has been identified. Asterisk indicates clinical data not available