Figure 3.

Locational distribution of mutation sites on PTPN11 protein. (a) The schematic primary structure of PTPN11 with structural domains and pathogenic missense mutations. The mutations associated with different inheritance modes are colored differently (DN and GF mutations are shown in green and red, respectively). (b) Mapping of the mutations on the crystal structure of human PTPN11 (PDB code: 2shp). The mutant residues are represented by sphere models. (c) The schematic models of the PTPN11 domain interaction with pathogenic mutations.