Figure 3. Structure of the FAM161A gene and localization of a currently known RP-associated mutation. Black bars indicate coding exons or exon segments whereas white bars represent the 5′ and 3′ untranslated region (UTR), respectively. The transcript splicing pattern is depicted below showing the two alternatively spliced isoforms including or lacking exon 3a. Most currently known mutations localize to exon 3; the novel p.R335X mutation found in this study is shown in red.