Insights into Disease-Associated Mutations in the Human Proteome through Protein Structural Analysis.

Abstract excerpt

Most known disease-associated mutations are missense mutations involving changes of amino acids of proteins encoded by their genes. Given the plethora of genetic studies, sequenced exomes, and new protein structures determined each year, it is appropriate to revisit the role that structure plays in providing insights into the molecular basis of disease-associated mutations. In that regard, a large-scale...

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