Jasper Sandbox: Difference between revisions

Mutations in the HRAS can lead to the development of Costello syndrome and bladder cancer. Costello syndrome is a genetic disorder in which infants can be born mentally retarded, commonly with loose folds of skin and very flexible joints. The most common mutation is the replacement of glycine with serine at <scene name='Jasper_Sandbox/Cs/2'>G12S</scene>, although five mutations have been linked to the disorder. The mutation leads to HRAS that is unable to enter the inactive form, and thus leads to uncontrolled cell growth. The mutation of HRAS linked with bladder cancer is also at the same position, <scene name='Jasper_Sandbox/Cs/2'>G12<scene name='Jasper_Sandbox/Cs/2'>G12S</scene></scene>, where a valine instead of serine replaces a glycine. Like the mutation in Costello syndrome, this mutation results in HRAS proteins to be constantly on which leads to uncontrolled growth.