Figure 2 | European Journal of Human Genetics

Figure 2

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

Figure 2

Schematic representation of the proteins encoded by USH1 genes, annotated with the novel variants identified by TES. For each protein, the longest isoform is shown, and the novel pathogenic sequence variants are indicated. Abbreviations: IQ, isoleucine-glutamine motifs; MyTH4, myosin tail homology 4 domain; FERM, band 4.1-ezrin-radixin-moesin domain; SH3, src homology 3 domain; PDZ, PSD95-discs large-ZO1 domain; CC, coiled coil domain; PST, proline–serine–threonine–rich region; EC, extracellular cadherin domain; TM, transmembrane domain; Ank, ankyrin domain; SAM, sterile alpha motif domain.

Back to article page