Discuss and explain which of the two mutations might be the most likely cause of recurrent infections and in which region of the protein would each mutation affect?
In a big cohort study with individuals having recurrent infections, some individuals were found to have mutations in toll-like receptor 4 (TLR-4). These mutations were identified as Asp299Gly (aspartic acid is changed to glycine at 299 position) and Thr399Ile (threonine is changed to isoleucine at 399 position). Using the western blot assays identifying the phosphorylation of downstream signaling proteins of TLR4, it was identified that the Asp299Gly mutation disrupts TLR4 signaling, whereas the Thr399Ile mutation has no effect on TLR4 signaling.
Using this information, discuss and explain which of the two mutations might be the most likely cause of recurrent infections and in which region of the protein would each mutation affect?
***PLEASE AIM TO WRITE BETWEEN 140-160 WORDS
