Article
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Human mutation - 1 Nov 2011
Levy Ronen, Sobolev Vladimir, Edelman Marvin
Abstract excerpt
Protein structure serves as a key determinant for revealing the molecular basis of human disease. Metal ions are among the most frequently bound heterogroups in proteins affecting structure and function. We analyzed the relationship between single nucleotide polymorphisms (SNPs) associated with human disease and metal binding sites in proteins on a database scale, using structural models and predictive tools. A...
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