Article

Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure: implications for variant effect prediction

2021-10-24

Abstract excerpt

Most known pathogenic mutations occur in protein-coding regions of DNA and change the way proteins are made. Taking protein structure into account has therefore provided great insight into the molecular mechanisms underlying human genetic disease. While there has been much focus on how mutations can disrupt protein structure and thus cause a loss of function (LOF), alternative mechanisms, specifically dominant-neg...

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Literature Corpus work: e32d25dc-4a4e-5940-85c6-33815628406a
DOI: 10.1101/2021.10.23.465554

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