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Deep mutational scanning data for VX-661 and VX-445 response colored by AlphaMissense pathogenicity score.

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posted on 2024-01-25, 18:35 authored by Eli Fritz McDonald, Kathryn E. Oliver, Jonathan P. Schlebach, Jens Meiler, Lars Plate

A. Basal CFTR surface immune staining versus VX-661 CFTR cell surface immune staining intensity [23]. Pathogenic variants score from 0.56–1.00 (violet), ambiguous variants score from 0.34–0.56 (grey), and benign variants score 0.04–0.34 (green). Error bars represent standard deviation. The distribution of pathogenicity colors throughout the plots suggested that AM pathogenicity prediction score failed to predict the VX-661 response. B. Basal CFTR surface immune staining versus VX-445 CFTR cell surface immune staining intensity. Colored the same as in A. Error bars represent standard deviation. Again, AM score failed to predict VX-445 response. C. Basal CFTR surface immune staining versus VX-661 + VX-445 CFTR cell surface immune staining intensity. Colored the same as in A. Error bars represent standard deviation. Finally, AM score failed to predict the combination of VX-661 and VX-445 response on a variant basis.

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