Figure 1From: OTOF mutation screening in Japanese severe to profound recessive hearing loss patients The location of mutations in otoferlin protein and the evolutionary conservation of the amino acids. (A) Evolutionary conservation. The locations of mutations are boxed. (B) Novel pathogenic OTOF mutations found in this work and relation to the functional domains of otoferlin. C2A-F: C2 domains. TMD: transmembrane domain.Back to article page