Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene
Figure 3
(a) Schematic representation of protein domains and isoforms of RDX gene. The positions of known pathogenic mutations were indicated with arrow and the newly identified mutation was boxed. The protein domain structure is based on the reference sequence NP_002897 (transcript isoform a). (b) Clustal W multiple sequence alignment of alpha-helical domain of RDX protein sequences of seven different species. The 1st and 4th amino acid residues of heptad repeat sequences are highly conserved through the species.
