Assessment of effect of mutations

EXAMPLE 1

It has been established the criterion for identification of mutations in lipoprotein lipase which represent a risk factor for cardiovascular diseases.

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Lipoprotein lipase: A bioinformatics criterion for assessment of mutations as a risk factor for cardiovascular disease.
Glisic S, Arrigo P, Alavantic D, Perovic V, Prljic J, Veljkovic N. Proteins. 2008 Feb 15;70(3):855-62.

 

EXAMPLE 2

MS approach was used to identify potential candidate pandemic influenza viruses by predicting mutations in the viral hemagglutinin (HA) gene that are likely to (differentially) affect critical interactions between the HA protein and target cells from bird and human origin, respectively. Predictions were subsequently validated by generating pseudotyped retrovirus particles and genetically engineered influenza A virus (IAV) containing these mutations and characterizing potential effects on virus entry and replication in cells expressing human and avian IAV receptors, respectively.

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In Silico Prediction and Experimental Confirmation of HA Residues Conferring Enhanced Human Receptor Specificity of H5N1 Influenza A Viruses.
Schmier S, Mostafa A, Haarmann T, Bannert N, Ziebuhr J, Veljkovic V, Dietrich U, Pleschka S. Sci Rep. 2015 Jun 19;5:11434.