Figure 1

Novel pathogenic OTOF mutations in this work. a. A schematic diagram of the human otoferlin structure with all pathogenic mutations of this work illustrated (shown by arrows)[9, 20]. b. ClustalW alignment result of the long isoform of otoferlin among different organisms, including human, dog, mouse, rat and drosophila*. The results as shown are the residues including 3 missense mutations reported in this work with their flanking regions. Different residues are shown in gray. Locations of mutated amino acids are framed in orange boxes and pointed by arrows. * Different from mammals having multiple ferlin genes, drosophila only has one ferlin gene called misfire, which is also its protein name[28]