Fig. 2
Protein domain structures of otoferlin with pathogenic variants in our cohort. Upper panel: Otoferlin contains six C2 domains (C2A–C2F). Missense variants are displayed (top) on the domain structure, and nonsense and splice site variants are located below the domain structure. A red bordered area contains three C2 domains encoded by short isoform of OTOF. TM: transmembrane domain. Lower panel: Exon–Intron structure of various OTOF isoforms (NM_001287489, NM_194248, NM_194323, NM_194322, NM_004802) locating each variant detected in the study (Captured from UCSC genome browser (https://genome.ucsc.edu/))