In silico prediction of a disease-associated STIL mutant and its affect on the recruitment of centromere protein J (CENPJ)

▸ A computational platform was used for pathogenic allele prediction. ▸ The Rs147744459 allele of STIL was predicted to be most associated with disease. ▸ The R242C mutation was shown to disrupt the binding affinity of STIL for CENPJ. ▸ The 3D conformation of STIL protein was drastically affected by this mutation. ▸ Loss of H-bond formation affected protein stability in the STIL R242C mutant.