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AlphaMissense in the AlphaFold Database

At the AlphaFold Database, you can now explore the predicted structures for canonical human proteins and seamlessly toggle between two key visual representations, the quality of structure model (pLDDT) and the average pathogenicity scores from AlphaMissense.

The variant data is displayed using an innovative and interactive heatmap and 3D visualisation, offering insights into the broader implications of specific residue changes. The heatmap can help interpreting important functional areas with higher predicted pathogenicity.

Users can filter the heatmap by category and modify the range for categories based on their focus.

The AFDB update significantly aids researchers in identifying structural areas to guide their investigations into protein function and provides easy access to download the data.

AlphaMissense in the AFDB
Figure 33. AlphaFold Database showing AlphaMissense data integration for Rab-like protein 2A.

Further information

If you are interested in a deeper dive into AlphaMissense, we recommend you watch our webinar “AlphaMissense predictions for human genetic variation research”. It details how AlphaMissense data can be accessed and visualised by researchers studying human genetics variations. 

The webinar also demonstrates how EMBL-EBI resources have incorporated AlphaMissense data.