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

A number of studies have demonstrated induction of the unfolded protein response (UPR) in
patients with severe congenital neutropenia (CN) harbouring mutations of ELANE, encoding …

Evolutionary analyses of biological data are becoming a prerequisite in many fields of
biology. At a time of high-throughput data analysis, phylogenetics is often a necessary …

Highlights•Experimental and computational approaches illuminate how enzyme function
evolves.•Structure, EC number, and mechanism are complementary descriptions of …

Abstract Background Abel and Trevors have delineated three aspects of sequence
complexity, Random Sequence Complexity (RSC), Ordered Sequence Complexity (OSC) …

Severe congenital neutropenia is a heterozygous group of bone marrow failure syndromes
that cause lifelong infections. Mutation of the ELANE gene encoding human neutrophil …

The development of methods to assess the impact of amino acid mutations on human health
has become an important goal in biomedical research, due to the growing number of …

Mutations in ELANE cause severe congenital neutropenia (SCN), but how they affect
neutrophil production and contribute to leukemia predisposition is unknown. Neutropenia is …

The huge influx of protein sequence and structure information is becoming more a quagmire
of data rather than the font of knowledge that was anticipated. The latest tally of sequences …

DIVERGE is a software system for phylogeny-based analyses of protein family evolution and
functional divergence. It provides a suite of statistical tools for selection and prioritization of …