The main aim of our project consists in filling the gap between thermodynamic data and disease-related information on protein variants. We propose to integrate theoretical/computational approaches with experimental validations to assess the impact of amino acid variations on protein structure, function and protein-protein binding affinity.
We will generate a comprehensive database collecting all the structural and functional protein variants associated to diseases, with specific reference to predicted or experimentally available thermodynamic data. Then, we will use those data to implement customized methods for predicting the impact of variants on proteins associated to cancer and to genetic diseases affecting calcium signalling.
Our proposal represents an unprecedented opportunity to bring together computational and experimental scientists for creating a consortium able at characterizing the effect of genetic variants at protein level and their impact on human health.