Most disease-causing mutations that swap amino acids do so by making proteins less stable
Adrian Bogdan
By Hugo Francisco de Souza Reviewed by Danielle Ellis, B.Sc. Jan 10 2025 A comprehensive analysis of over 500,000 human protein variants reveals that 60% of disease-causing missense mutations reduce protein stability Study: Site-saturation mutagenesis of 500 human protein domains . Image Credit: nobeastsofierce/Shutterstock.com A comprehensive analysis of over 500,000 human protein variants reveals that 60% of disease-causing missense mutations reduce protein stability In a recent study
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