Most Monogenic Disorders Are Caused by Mutations Altering Protein Folding Free Energy.

ABSTRACT: Revealing the molecular effect that pathogenic missense mutations have on the corresponding protein is crucial for developing therapeutic solutions. This is especially important for monogenic diseases since, for most of them, there is no treatment available, while typically, the treatment should be provided in the early development stages. This requires fast targeted drug development at a low cost. Here, we report an updated database of monogenic disorders (MOGEDO), which includes 768 proteins and the corresponding 2559 pathogenic and 1763 benign mutations, along with the functional classification of the corresponding proteins. Using the database and various computational tools that predict folding free energy change (ΔΔG), we demonstrate that, on average, 70% of pathogenic cases result in

SUBMITTER: Pandey P 

PROVIDER: S-EPMC10888012 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature