Non-synonymous single nucleotide polymorphism

Chasman, D. and R.M. Adams, "Predicting the Functional Consequences of Non-Synonymous Single Nucleotide Polymorphisms Structure-Based Assessment of Amino Acid Variation," /. Mol. Biol., 307, 683-706 (2001). 

Letoumeau, I. J., Deeley, R. G., and Cole, S. P. (2005) Functional characterization of non-synonymous single nucleotide polymorphisms in the gene encoding human multidrug resistance protein 1 (MRPl/ABCCl). Pharmacogenet. Genomics. 15,647-657. 

Cho SH, Oh SY, Bahn JW, et al. (2005) Association between bronchodUating response to short-acting beta-agonist and non-synonymous single-nucleotide polymorphisms of beta-adrenoceptor gene. Clin Exp Allergy. 35, 1162-1167. 

Daniel Chasman R, Adams M. Predicting the functional consequences of non-synonymous single nucleotide polymorphisms structure-based assessment of amino acid variation. J Mol Biol 1996 307 683-706. 

Tamura A, Wakabayashi K, Onishi Y, Takeda M, Ikegami Y, Sawada S, Tsuji M, Matsuda Y, Ishikawa T (2007) Re-evaluation and functional classification of non-synonymous single nucleotide polymorphisms of the human ATP-binding cassette transporter ABCG2. Cancer Sci 98 231-239... 

Bao, L., Cui, Y. Prediction of the phenotypic effects of non-synonymous single nucleotide polymorphisms using structural and evolutionary information. Bioinformatics 2005,21,2185-90. 

Koyano, S., Kurose, K., Ozawa, S., Saeki, M., Nakajima, Y., Hasegawa, R., Komamura, K., Ueno, K., Kamakura, S., Nakajima, T., et al. (2002) Eleven novel single nucleotide polymorphisms in the NR1I2 (PXR) gene, four of which induce non-synonymous amino acid alterations. Drug Metab. Pharmacokinet. 17, 561-565. 

It follows that the technique is useful to identify (1) point mutation (a single different nucleotide) that may be a silent mutation (also known as a synonymous mutation due to degenerate coding), resulting in a codon that codes for the same amino acid or a missense mutation (type of non-synonymous mutation) producing a codon that codes for a different amino acid the resulting protein may be non-functional but certain missense mutations can be quiet since the protein may stiU function polymorphisms, (3) insertions, and deletions. 

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