Jul 11, 2006

Predicting the effects of amino acid substitutions on protein function

Annual Review of Genomics and Human Genetics
Pauline C Ng, Steven Henikoff


Nonsynonymous single nucleotide polymorphisms (nsSNPs) are coding variants that introduce amino acid changes in their corresponding proteins. Because nsSNPs can affect protein function, they are believed to have the largest impact on human health compared with SNPs in other regions of the genome. Therefore, it is important to distinguish those nsSNPs that affect protein function from those that are functionally neutral. Here we provide an overview of amino acid substitution (AAS) prediction methods, which use sequence and/or structure to predict the effect of an AAS on protein function. Most methods predict approximately 25-30% of human nsSNPs to negatively affect protein function, and such nsSNPs tend to be rare in the population. We discuss the utility of AAS prediction methods for Mendelian and complex diseases as well as their broader applications for understanding protein function.

  • References80
  • Citations426
  • References80
  • Citations426


Mentioned in this Paper

Amino Acid Metabolism, Inborn Errors
Protein Function
Protein Conformation
Atypical Mycobacteriosis, Familial
Single Nucleotide Polymorphism
Amino Acid [EPC]
Amino Acid Substitution

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