Fig. 3

Overview of the novel OTOF founder variant c.5975A > G (p.Lys1992Arg). A Representative short-read sequencing (SRS) results of the c.5975A > G (p.Lys1992Arg) variant in homozygous and heterozygous individuals among DFNB9 patients. B A high co-occurrence rate between the c.5098G > C (p.Glu1700Gln) and c.5975A > G (p.Lys1992Arg) variants, in homozygous and heterozygous individuals, is observed in our DFNB9 patients. C Cross-species alignment of homologous sequences shows the high conservation of the coding region of NM_001287489.2 exon 46 (residues 1939 to 1997). The c.5975A > G (p.Lys1992Arg) variant in human otoferlin is located within this conserved C-terminal loop (dashed underline), adjacent to the reported transmembrane domain (solid underline). Homologous sequences were obtained from the UCSC database (Table S1)