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.