Article

Functionally constrained human proteins are less prone to mutational instability caused by single amino acid substitutions

2024-07-16

Abstract excerpt

It is well understood that missense mutations that disrupt protein structural stability are a common pathogenic mechanism in human genetic disease. At a proteome-wide scale, we have quantitated potential disruption of protein stability due to amino acid substitution and show that the most functionally constrained proteins are typically less susceptible to large mutational changes in stability. Mechanistically, thi...

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Literature Corpus work: eb2fc03e-689a-5dfc-92a0-fb158f54b59b
DOI: 10.1101/2024.07.14.603410

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