Nonsynonymous single nucleotide polymorphisms (nsSNPs) are coding variants that
introduce amino acid changes in their corresponding proteins. Because nsSNPs can affect …

Many gene defects are relatively easy to identify experimentally, but obtaining information
about the effects of sequence variations and elucidation of the detailed molecular …

The most common cause of monogenic disease is a single base DNA variant resulting in an
amino acid substitution. In a previous study, we observed that a high fraction of these …

We find that the degree of impairment of protein function by missense variants is predictable
by comparative sequence analysis alone. The applicable range of impairment is not …

There is much interest in characterizing the variation in a human individual, because this
may elucidate what contributes significantly to a person's phenotype, thereby enabling …

C‐reactive protein (CRP) is a well‐documented marker of atherosclerotic cardiovascular
disease risk. We resequenced CRP to identify a comprehensive set of common SNP …

Since the initial sequencing of the human genome, many projects are underway to
understand the effects of genetic variation between individuals. Predicting and …

LacI/GalR transcription regulators have extensive, non-conserved interfaces between their
regulatory domains and the 18 amino acids that serve as 'linkers' to their DNA-binding …

Recent progress resolving the phylogenetic relationships of the major lineages of mammals
has had a broad impact in evolutionary biology, comparative genomics and the biomedical …

Secondary transmembrane transport carriers fall into families and superfamilies allowing
prediction of structure and function. Here we describe hundreds of sequenced homologues …