… mutations by applying structural and bioinformatics methods and herein we discuss
bioinformatics tools available for protein structure–function studies and prediction and evaluation of …

… Knowledge on protein structure-function relationships is … Mutations in the neutrophil elastase
gene (ELA2) are causative … an experimental study of a number of ELA2 missense mutations …

… heterozygous mutations in the gene ELA2 encoding the serine protease neutrophil elastase
in all … The missense mutations (yellow), the deletion resulting from the intron 4 splice-donor …

… mutation in the ELA2 gene encoding the human neutrophil … SCN from a novel missense
mutation of the ELA2 gene. The patient … in most of the bioinformatics analyses (Table 2). Both …

… With the aid of bioinformatic approaches, these two mutations were also found to have … on
GJB2 protein in this study. Thus, this study is an another example showing that bioinformatic …

… the analysis of genes, proteins, and diseases to reveal protein structure–function relationships,
… The missense mutation analysis approach is based on our experience during the last 15 …

… Mutations in ELA2 encoding the neutrophil granule protease, … bioinformatic analysis predicted
that the various mutations … Nonsense mutations in ADTB3A cause complete deficiency of …

… (2006) Bioinformatic analysis of protein structure-function relationships: case study of
leukocyte elastase (ELA2) missense mutations. Human …

… these tools for inference of mutation-structure-function relationship is also … Bioinformatic
analysis of protein structure-function … ) missense mutations for the immunogenetics special issue. …

… Missense and nonsense mutations are the most common … and additional bioinformatics
analyses to all the IDbases. … , GP correlations, and structure–function relationships. The devel…