Conserved waters are tightly bound to proteins, so much they can be viewed as part of a protein structure itself. We found that amino-acid residues around these waters, if mutated, tend to be quite highly pathogenic to humans.

We confirmed this association across human PDB structures and we showed how this could be a disease-causing mechanism in Gaucher disease.

What surprised us was that seemingly no one looked into this earlier at a PDB-wide scale. Have conserved waters simply been overlooked?

I'm the corresponding author, a regular reader of HN, and happy to answer any questions! :)