Article

Site saturation mutagenesis of 500 human protein domains reveals the contribution of protein destabilization to genetic disease

2024-04-29

Abstract excerpt

Missense variants that change the amino acid sequences of proteins cause one third of human genetic diseases 1 . Tens of millions of missense variants exist in the current human population, with the vast majority having unknown functional consequences. Here we present the first large-scale experimental analysis of human missense variants across many different proteins. Using DNA synthesis and cellular selection e...

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Literature Corpus work: e29a9aed-356c-5103-8618-2a7142b146e1
DOI: 10.1101/2024.04.26.591310

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