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. Author manuscript; available in PMC: 2009 Dec 21.
Published in final edited form as: Am J Ophthalmol. 2000 Jun;129(6):834–835. doi: 10.1016/s0002-9394(00)00517-1

Fig. 2.

Fig. 2

Gene and protein structure of AIPL1. a, AIPL1 consists of six exons, with alternate polyadenylation sites in the 3′ UTR shown by arrows. Cys239Arg denotes the location of the TGC→CGC missense mutation in exon 5 of the RFS128 family. Trp278X denotes the location of the TGG→TGA nonsense mutation in exon 6 of the KC, MD, RFS127 and RFS121 families. Ala336Δ2 denotes the location of the 2-bp deletion in exon 6 of RFS121. Benign coding sequence substitutions identified were Phe37Phe (TTT/TTC; 0.98/0.02 frequency), Cys89Cys (TGC/TGT; 0.99/0.01), Asp90His (GAC/CAC; 0.84/0.16), Leu100Leu (CTG/CTA; 0.57/0.43) and Pro217Pro (CCG/CCA; 0.61/0.39) b, Protein sequence of AIPL1. The alignment demonstrates the high level of sequence conservation between rat and human AIPL1, and mouse and human AIP. Identical residues in the four sequences are noted with an asterisk; identical residues in three of the sequences are indicated with a period.