A new mega-database of half a million mutations may flag new ways of treating genetic disease, scientists say.

Research shows 60% of missense mutations destabilize proteins, linking protein folding to genetic diseases, including ...

Some missense mutations are known to cause disease. But what about the thousands of other missense mutations that have ...

The second pair, HumVar 3, consists of all the 13,032 human disease-causing mutations from UniProt and 8,946 human nonsynonymous single-nucleotide polymorphisms (nsSNPs) without annotated ...

We studied five patients from two families from the United States of America. In family CSM1, two out of three siblings developed proximal muscle weakness and wasting while in their twenties or ...

Researchers eventually want to map the effects of every possible mutation on all human proteins to transform precision ...

An ingenious large-scale experiment in Barcelona has led to the creation of a catalog detailing the effects of half a million ...

The work helps explain why minimal changes in the human genome, also known as missense mutations, cause disease at the molecular level. The researchers discovered that protein instability is one of ...