Figure 1
From: Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
Schematic representation of USH1 and USH2 proteins and localization of the novel, presumably pathogenic mutations. The long isoform of each USH protein is shown. *Splice site mutations. Abbreviations: IQ motifs, isoleucine-glutamine motifs; SAH, stable single α-helix; MyTH4, myosin tail homology 4; FERM, band 4.1-ezrin-radixin-moesin; PDZ, PSD95, discs large, ZO-1; PST, proline-serine-threonine-rich region; EC, extracellular cadherin; TM, transmembrane domain; Ank, ankyrin domains; cent, central region; SAM, sterile alpha motif; LamG, laminin G; LamG/TspN/PTX, N-terminal thrombospondin/pentaxin/laminin G-like domain; LamNT, laminin N-terminal; EGF Lam, laminin-type EGF-like; FnIII, fibronectin type III; VLGR1, very large G protein-coupled receptor 1; Calx, Ca2+-binding calcium exchanger β; EAR, Epilepsy Associated Repeats; Ala/Gly/Ser rich, alanine, glycine, and serine rich region; Pro rich, proline rich region.