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1. Single Nucleotide Polymorphism (SNP)
ACTCGAGCTA
ACTCGCGCTA
10. Monogenic Versus PolygenicDisease
Monogenic: One base change = disease.
Relatively easy to detect and analyze.
Polygenic: A set of base changes affect the probability of disease.
Subtle – hard to detect and analysis
12. Structure Modeling
High throughput
>40% sequence ID
Fixed backbone
Graph based search for side chain arrangements
Identify unreliable regions
13. Retinol (Vitamin A) Binding Protein Missense Mutation: Gly-75 to Asp-75 Disease: Vitamin A Deficiency
14. Aldehyde Dehydrogenase 10 Missense Mutation: Leu-106 to Arg-106Disease: Sjogren-Larsson Syndrome
15. Distribution of the Effects of Missense cSNPs on Protein Molecular Function for the SNP-Disease Set
23. Steady State Abundance
25. Relationship of Experimental Total PAH Enzyme Activity (%) and the Protein Level (%)
29. The Structure of a TCR Heterodimer
30. Effect of Missense SNPs in the Framework Regions (FR) of TCR Vßs
35. http://www.SNPS3D.org