Principal Investigator: Professor David Ascher
Baker Heart and Diabetes Institute (Melbourne, Australia)Tags: 50000, Coding mutations, Missense tolerance, Protein function
Proteins are the molecular machines that control most biological processes. Mutations that affect protein structure and function are responsible for many genetic diseases, including cancer. Characterising the molecular consequences associated with a mutation is important to understand genetic diseases, and identify new personalised treatment options.
This project will assess, over the next 18 months, the ability of human genomic sequencing data to identify the functionally important regions of all human proteins. This will provide insight into how these proteins work, and importantly, how mutations that disrupt these functions lead to different diseases.
To do this, we will look at where we see genetic variation within the 3D structure of each protein. Regions that are depleted of genetic variation are more likely to be functionally important. This information will be mapped across the 3D structures all human proteins, and evaluated for their predictive value.
This information will provide a basis to explore and understand the molecular consequences of new genetic variants, and in particular characterise variants of unknown significance.