Summary
Half of all disease-causing missense mutations are due to disruption of protein stability (1). Authors find that a smaller fraction were destabilizing in Intrinsically disordered regions. This was evaluated using (ESM)-1b, ESM-IF with cutoffs set using the mega-scale (2) dataset.
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Ref (1)
1.
Cagiada M, Jonsson N, Lindorff-Larsen K. Decoding molecular mechanisms for loss-of-function variants in the human proteome. openRxiv; 2024. Available from: https://doi.org/10.1101/2024.05.21.595203
2.
Tsuboyama K, Dauparas J, Chen J, Laine E, Mohseni Behbahani Y, Weinstein JJ, et al. Mega-scale experimental analysis of protein folding stability in biology and design. Nature. 2023;620(7973):434–44. Available from: https://doi.org/10.1038/s41586-023-06328-6