Bioinformatic analysis of protein structure–function relationships: case study of leukocyte elastase (ELA2) missense mutations
J Thusberg, M Vihinen - Human mutation, 2006 - Wiley Online Library
Cyclic and congenital neutropenia are caused by mutations in the human neutrophil
elastase (HNE) gene (ELA2), leading to an immunodeficiency characterized by decreased
or oscillating levels of neutrophils in the blood. The HNE mutations presumably cause loss
of enzyme activity, consequently leading to compromised immune system function. To
understand the structural basis for the disease, we implemented methods from
bioinformatics to analyze all the known HNE missense mutations at both the sequence and …
elastase (HNE) gene (ELA2), leading to an immunodeficiency characterized by decreased
or oscillating levels of neutrophils in the blood. The HNE mutations presumably cause loss
of enzyme activity, consequently leading to compromised immune system function. To
understand the structural basis for the disease, we implemented methods from
bioinformatics to analyze all the known HNE missense mutations at both the sequence and …
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