Scientists launch first database linking DNA mutations to protein stability and genetic disease

Scientists have created a new database that catalogs over 500,000 DNA mutations and their effects on protein stability. This is the first resource of its kind, aiming to help develop personalized treatments for genetic diseases. The database, called a human "domainome," reveals that 60% of studied mutations destabilize proteins, which can lead to misfolding and disease. For example, mutations causing cataracts were found to destabilize proteins that maintain lens transparency. While this database is a significant advancement, it currently covers only 2.5% of known human proteins. Researchers plan to expand the database to better predict how mutations affect protein stability and aid in drug development.