MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome

Figure 2

The genetic analysis of the family with Tietz/Waardenburg syndrome. (a) Sequencing results of the MITF mutation. Sequence chromatogram indicates a G to C transition of nucleotide 650. (b) Alignment of multiple MITF protein sequences across species. The Arg217 affected amino acid locates in the highly conserved amino acid region in different mammals (from Ensembl). Red word shows the Arg217 site.

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(b)