Figure 1. Homozygous ARL2BP mutations in families with autosomal recessive retinitis pigmentosa. A: Pedigrees of two study families. The arrow indicates the affected proband in each family. The mutation in ARL2BP (NM_012106.3) identified in each family is indicated. Mut=ARL2BP mutation present. B: Multiple DNA sequence alignment of orthologs shows that the donor splice site sequences and site of mutations (c.207+1 and c.390+5) are highly conserved across different species. C: Schematic of the genomic structure of ARL2BP. Positions of mutations in ARL2BP identified in this study (below the gene structure) and previously identified mutations (above the gene structure) are indicated (not to scale).