Figure 2:

Location and disease manifestation of human WHRN mutations. FL-whirlin mRNA (untranslated region-light blue; coding sequence region-green) is translated into a protein with two harmonin N-like (HNL) domains, three PDZ domains, a proline-rich (PR) region, and a PDZ-binding motif (PBM). Arabic numerals in the coding sequence region denote exon numbers. The asterisks and short line in red denote mutations in the N-terminal region that cause USH2D, except p.Q54X. The patient with p.Q54X mutation has not been tested for hearing. The asterisks in blue denote C-terminal mutations that cause DFNB31.