Figure 3 | European Journal of Human Genetics

Figure 3

From: An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Figure 3

Schematic representation of the proteins encoded by USH2 genes and PDZD7, annotated with the novel variants identified by TES. For each protein, the longest isoform is shown, and the novel pathogenic sequence variants are indicated. LamG/TspN/PTX, N-terminal thrombospondin/pentaxin/laminin G-like domain; Lam Nter, laminin N-terminal domain; Lam EGF-like, laminin-type EGF-like domain; LamG-like, laminin G-like domain; FNIII, fibronectin type III domain; TM, transmembrane domain; Calx, Ca2+-binding calcium exchanger β; EAR, Epilepsy Associated Repeats; PDZ, PSD95-discs large-ZO1 domain; GPS, G-protein-coupled proteolysis site.

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