Michael Lisby

Nov 1, 2024 | sciencedirect.com | Nicole Haloupek |Eva Nogales |Michael Lisby |Si-Jin Cheng

The folding, stability, and function of a protein are determined by its amino acid sequence.1 Accordingly, gene variants that affect the amino acid sequence can result in proteins with changed structural, biophysical, and functional properties.2 In recent years, tremendous progress has been made in our understanding and ability to predict the consequences of single amino acid substitutions (missense variants) on the structural stability and function of proteins.2,3,4,5,6,7 In comparison, the...