Amino acid mutations may have diverse effects on protein structure and function. Thus
reliable information about the protein sequence variations is essential to gain insights into …

As next-generation sequencing projects generate massive genome-wide sequence
variation data, bioinformatics tools are being developed to provide computational …

Advances in DNA sequencing technologies have led to an avalanche-like increase in the
number of gene sequences deposited in public databases over the last decade as well as …

Point mutations resulting in the substitution of a single amino acid can cause severe
functional consequences, but can also be completely harmless. Understanding what …

The 1000 Genomes Project data provides a natural background dataset for amino acid
germline mutations in humans. Since the direction of mutation is known, the amino acid …

Single amino-acid substitution in a protein affects its structure and function. These changes
are the primary reasons for the advent of many complex diseases. Analyzing single point …

The recent drop in genome sequencing costs has created a promising horizon for the
development of genomic medicine. Within the biomedical environment, sequencing data are …

Elucidating the precise molecular events altered by disease-causing genetic variants
represents a major challenge in translational bioinformatics. To this end, many studies have …

In this review we describe a protocol to annotate the effects of missense mutations on
proteins, their functions, stability, and binding. For this purpose we present a collection of the …

Predicting the functional impact of protein variation is one of the most challenging problems
in bioinformatics. A rapidly growing number of genome‐scale studies provide large amounts …