Amino acid mutations

Research project Amino acid mutations

Assessing the likely effect of amino acid mutations on a protein (and the organism it is in)

We recently developed the DEOGEN approach, which predicts whether a particular amino acid variant in a human protein is likely to cause disease in the person carrying that mutation in their genetic material. The advantage of our approach is that we try to 'contextualise' the protein as much as possible by including information such as whether it is encoded by an essential gene or whether it interacts with many other proteins. The effect the mutation directly has on the protein is important, but the kind of protein it is and what role it has in the organism is equally relevant. We have extended this concept in the DEOGEN2 approach, where the predictions can be visualised in a highly interactive web server part of the MutaFrame project. In addition, we are further working in collaboration with Prof. Rooman (ULB) on understanding the 'molecular phenotype' of mutations, i.e. their direct effect on the protein itself.

Funding

ICITY-RDI.BRU (Jan. 1, 2014-Dec. 31, 2023)
A software framework for identifying molecular causes of human diseases (Mutaframe)

Resources

DEOGEN2 (Software tool, In-house)

ST resource  DEOGEN2
Predicting the effect of amino acid mutations in human proteins