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

But there are millions of other missense mutations in the genomes of people, which have unknown consequences. A new study has attempted to examine the impact of about 500,000 of those mutations on ...

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 ...

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 ...

A comprehensive analysis of over 500,000 human protein variants reveals that 60% of disease-causing missense mutations reduce protein stability In a recent study published in Nature, researchers ...

The work helps explain why minimal changes in the human genome (missense mutations) cause disease at the molecular level. The researchers discovered that protein instability is one of the main ...

Improving our understanding of the impact of mutations on protein localization is essential ... "No one else has studied the ...

New exon-capture techniques will direct sequencing efforts to the most informative and easily interpretable protein-coding fraction ... human disease-causing mutations from UniProt and 8,946 ...

For years, scientists have focused on amyloid beta buildup as the main culprit in Alzheimer’s disease, but a new study suggests the real problem might lie in a stalled protein-cutting process in the ...