The future of HOPE: what can and cannot be predicted about the molecular effects of a disease causing point mutation in a protein?

Francesca Camilli, Annika Borrmann, Shima Gholizadeh, Tim AH te Beek, Remko KP Kuipers, Hanka Venselaar


Next generation sequencing is greatly speeding up the discovery of point mutations that are causally related to disease states. Knowledge of the effects of these point mutations on the structure and function of the affected proteins is crucial for the design of follow-up experiments and diagnostic kits, and ultimately for the implementation of a cure. HOPE can automatically predict the molecular effects of point mutations. HOPE does this by massively collecting highly heterogeneous data related to the protein and the mutated residue followed by automatic reasoning that as much as possible mimics the thinking of a trained bioinformatician. We discuss HOPE and review today's possibilities and challenges in this field.

Availability: HOPE is running as a web server available at


SNPs; point mutations analysis; HOPE; structural bioinformatics

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