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Fig. 4 | Genome Biology

Fig. 4

From: PRESCOTT: a population aware, epistatic, and structural model accurately predicts missense effects

Fig. 4

ESCOTT highlights functionally relevant regions of proteins. A The human SPAST gene, encoding the Spastin protein. ESCOTT evaluation of the full length Spastin protein. The matrix reports ranksorted ESCOTT scores in a colorscale going from dark blue (0, no effect) to yellow (1, highest effect). Below the ESCOTT matrix, known domains (purple color scale) and regions (brown color scale) of interest for the protein are reported from the UniProtKB database (www.uniprot.org/uniprotkb/Q9UBP0/feature-viewer) and the InterPro database (www.ebi.ac.uk/interpro/protein/UniProt/Q9UBP0/), data download in August 2023. Color scale at the bottom. B AlphaMissense analysis. Color scale at the bottom. C. EVE analysis of Spastin. The four white regions have not been calculated by EVE. They correspond to approximately half of the positions. Color scale at the bottom. D ESM1b analysis, as reported in [18]. Color scale at the bottom. E AlphaFold confidence (from InterPro) of positions in the Spastin’s structural model. Confidence is represented by a color scale from dark blue (very high) to red (very low)

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