Figure 3 of Méndez-Vidal, Mol Vis 2013; 19:2187-2195.


Figure 3. Schematic representation of USH2A protein structure encompassing the interspecies conservation of mutated residues. Isoform a is an N-terminal fragment of isoform b. NCBI HomoloGene-generated amino acid sequences were aligned using Clustal Omega software. The predicted orthologs show the conservation of the F1442 and L5063 residues. The F1442S mutation is located within the fourth fibronectin domain type III common for both isoforms, while the L5063R variant locates in the C-terminal transmembrane domain exclusive of isoform b. SP, signal peptide; LamGL, LamG-like jellyroll fold; Lam NT, laminin N-terminal; EGFLam, laminin-type EGF-like (LE); FN3, fibronectin type-III; LamG, laminin G; TM, transmembrane; PDB, PDZ-binding domain.