Assessment of pathogenicity and functional characterization of APPL1 gene mutations in diabetic patients

Figure 2 Distribution of mutation sites in adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 and adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 protein and potential changes in mutation sites. A: Exon and mutation site distribution of adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 (APPL1) gene; B: Domain and mutation site distribution of APPL1 protein; C: Potential change of mutated APPL1 protein. BAR: Bin-Amphiphysin-Rvs; PH: Pleckstrin homology; PTB: Phosphotyrosine-binding; UTR: Untranslated region.