Abstract 1812 Structural Characterization of Noonan Syndrome Associated NRasT50I Mutation

The GTPase Ras protein plays a crucial role in numerous cellular signal transduction pathways, notably the Raf-MEK-ERK pathway involved in regulating cell proliferation. While oncogenic mutations in Ras have been extensively studied, germline mutations in Ras remain relatively unexplored, despite their significant role in the pathogenesis of Rasopathies. Among the Rasopathies, the NRasT50I mutation associated with Noonan Syndrome has been found to enhance the Raf-MEK-ERK pathway, leading to dysregulation in cell proliferation.