Non-synonymous single nucleotide

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. 

Soyama A, Saito Y, Hanioka N, Murayama N, Nakajima O, Katori N, Ishida S, Sai K, Ozawa S, Sawada JI (2001) Non-synonymous single nucleotide alterations found in the CYP2C8 gene result in redueed in vitro paelitaxel metabolism. Biol Pharm Bull 24 1427 1430... 

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. 

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. 

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