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

Figure 1 Pedigree of 5 diabetes patients with novel adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 variants. Males and females are represented by squares and circles, respectively. The black padding suggests that the patient has diabetes, the arrow represents the progenitor, and the horizontal line indicates a patient who has undergone full exon sequencing. “a” indicates that the patient has the same mutation as the proband.