About the Talk
Presenter
Asst. Prof. Ogün Adebali
Abstract
Membrane-bound receptor proteins are cellular sensors involved in the initiation of various signal transduction pathways. Not all but some amino acid variants in these proteins cause numerous disorders. The major approach in predicting disease-causing mutations has been to evaluate the evolutionary constraint on the amino acid of interest.
This talk shows how a precise evolutionary analysis of human receptor genes (NPC1 and GPRC6A) can improve those predictions. Establishing accurate evolutionary histories and manually curating multiple sequence alignments identifies functionally important residues, which sharpens diagnostic precision for the genetic disorders that affect these receptors.
Date: August 27th, 2019 – 16:00 (Istanbul)