Site-directed mutagenesis is frequently used by scientists to investigate the functional impact
of amino acid mutations in the laboratory. Over 10 000 such laboratory-induced mutations …

Although mutation analysis serves as a key part in making a definitive diagnosis about a
genetic disease, it still remains a time-consuming step to interpret their biological …

Protein–protein interactions play a crucial role in all cellular functions and biological
processes and mutations leading to their disruption are enriched in many diseases. While a …

Background Genetic variations contribute to normal phenotypic differences as well as
diseases, and new sequencing technologies are greatly increasing the capacity to identify …

Background Understanding and predicting the effects of mutations on protein structure and
phenotype is an increasingly important area. Genes for many genetically linked diseases …

A huge quantity of gene and protein sequences have become available during the post-
genomic era, and information about genetic variations, including amino acid substitutions …

Attempts at using protein structures to identify disease-causing mutations have been
dominated by the idea that most pathogenic mutations are disruptive at a structural level …

As large-scale re-sequencing of genomes reveals many protein mutations, especially in
human cancer tissues, prediction of their likely functional impact becomes important …

Systematic interrogation of mutation or protein modification data is important to identify sites
with functional consequences and to deduce global consequences from large data sets …

The high-throughput technique of deep mutational scanning (DMS) has recently made it
possible to experimentally measure the effects of all amino-acid mutations to a protein …