Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature

Figure 3 Location of nucleotide changes and functional analysis of the variant. A: DNA sequence chromatograms. Arrows indicate the site of the mutation, which results in the p.D511N variant; B: Evolutionary conservation of Asp at position 511 (indicated by the arrow) on the MYO7A protein; C: The wild-type and variant (p.D511N) of the MYO7A protein. Yellow dashed lines represent hydrogen bonds between amino acids, and the purple dashed line represent electrostatic interaction between amino acids.