Thread by @d0choa

Systematically overlaying likely pathogenic variants over @DeepMind #AlphaFold predicted structures provides a unique opportunity to dive into the mechanisms of disease.

Here, NOD2 inflammatory disease-causing variants on the experimentally unresolved structure. 1/5

https://twitter.com/OpenTargets/status/1425763222729146368

Data-wise, the @OpenTargets Platform and Genetics Portal provide a comprehensive aggregation of disease-causing variants post-processed from other great resources like @GWASCatalog or @NCBI_Clinical ClinVar (via @evarchive) among others
platform.opentargets.org/evidence/ENSG0…
2/5

Now we also make human #AlphaFold structures available as a result of the collaboration between @embl and @DeepMind. All thanks to the great protein annotation tools provided by @uniprot

See NOD2 platform profile page
platform.opentargets.org/target/ENSG000…
3/5

Predicted structural regions with different degrees of confidence from #AlphaFold provide a unique angle to explore unknown mechanisms of disease

As with all predictions, interpretation needs to be treated with caution, particularly for complex-forming/disordered proteins 4/5

More info on how to reproduce this video on our community site community.opentargets.org/t/how-to-overl….

Credit to @HelenaCornu for the video editing! 5/5