Article
The 3D mutational constraint on amino acid sites in the human proteome.
Nature communications - 7 Jun 2022
Li Bian, Roden Dan M, Capra John A
Abstract excerpt
Quantification of the tolerance of protein sites to genetic variation has become a cornerstone of variant interpretation. We hypothesize that the constraint on missense variation at individual amino acid sites is largely shaped by direct interactions with 3D neighboring sites. To quantify this constraint, we introduce a framework called COntact Set MISsense tolerance (or COSMIS) and comprehensively map the...
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