Fig. 1.

Location of PTPN11 pathogenic variants shown along with exons and SHP-2 functional protein domains. The bar at top depicts the exons of the PTPN11 gene, with the coding region in pink. The blue boxes above the bar represent the number of patients observed with that particular pathogenic variant. The corresponding functional domains of the SHP-2 protein are shown below and includes the two SH2 domains and the protein tyrosine phosphatase (PTP) domain