Figure 1
From: Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients
Location of the identifiedmutations in SLC39A5, LEPREL1 and LRPAP1. Exons of human SLC39A5, LEPREL1 and LRPAP1 (upper), and positions of mutated residues corresponding to the topological model of the polypeptides (under). A total of seven missense mutations colored red were identified in this study. All mutations were located in the functional domains, except for the heterozygous mutation c.250C > T (p.Arg84Trp) in SLC39A5 (A,B,C). Pfam ZIP domain is responsible for metal ion transmembrane transporter activity (A). Proteins containing TPRs are involved in many biological processes, such as cell cycle regulation, mitochondrial and peroxisomal protein transport, neurogenesis and protein folding, RPT is an internal repeat, P4Hc domain participatesin inoxidoreductase activity (B). Alpha-2-MRAP isa Pfam domain that binds to the alpha-2-macroglobulin receptor (C).
