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Chunk #47 — Utility — An example of deleterious SNP analysis

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SNPs3D: candidate gene and SNP selection for association studies.
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E, P and L and VCAM1. Each of these SNPS is classified as deleterious by the sequence profile method (indicated by the negative SVM scores). The SNPs in SELE (C130W) and SELP (G179R) are also analyzed by the structure/stability model, and are found to be deleterious by this criterion as well (a disulfide bridge is broken in SELP, there is overpacking and backbone strain in SELP). As discussed below, further insight into the relationship between these SNPs and the inflammatory response is provided by consideration of the inter-gene relationships.