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. Author manuscript; available in PMC: 2013 Sep 11.
Published in final edited form as: Anticancer Agents Med Chem. 2010 Oct 1;10(8):583–592. doi: 10.2174/187152010794474019

Figure 1. Functional consequences of SNPs.

Figure 1

(A) SNPs residing in the protein coding sequence of a gene can lead to synonymous or non-synonymous changes. The latter modifies the amino acid sequence (missense) of a protein or results in early termination of protein translation (nonsense), both potentially producing a non-functional protein. (B) SNPs in the promoter or regulatory enhancer regions of a gene can lead to changes in transcriptional activity. In the human tumor necrosis factor (TNF) gene promoter, the predominant G allele at nucleotide position -376 does not bind the OCT-1 transcription factor. The minor A allele at position -376 creates a de novo binding site for the OCT-1 TF, leading to increased transcriptional activity. Lines represent introns, boxes are exons. Exons and introns are not drawn to scale.