Fig. 2: Mutation location, expression profile of IPO13, and crystal structure model of IPO13.
From: Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract
a Schematic representation of the mutation in IPO13 (ENST00000372343, NM_014652) and functional domains. b Conservation analyses of the mutated residues 111 in IPO13 across different species. c Crystal structure modeling of IPO13 (Phyre2: template c2x19B_). The mutant protein containing R111C (red) shows an increase in the number of hydrogen bonds. d RT-PCR in mouse tissues shows high expression of Ipo13 in the cornea, sclera, lens, and retina. e Comparison of the IPO13 expression in the patient and normal control. The results from real-time quantitative PCR show that the IPO13 mRNA level (normalized to GAPDH) was approximately 43% lower in the patient than in the normal control (***P < 0.0001)
