10 - snpdisease1

10 - snpdisease1 - SNPs, Mutations, Structure and Disease...

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SNPs, Mutations, Structure and Disease Many mutations are observed in studies of populations, usually in association with investigating some disease phenotype but also as part of SNP projects. How can one determine if these mutations are benign polymorphisms or deleterious mutations likely to be causative for the (usually disease) phenotype being investigated. The primary tools available for this are structures where available (or models if possible) and multiple sequence alignments. Phylogenetic studies can be used or studies within in a population taking care over segregation into disease and normal groups. Growth Hormone Receptor Extensive structural, interaction, mutation and disease data are available for this protein. GHR and FnIII Domains The extracellular domain is formed from FnIII domains which are highly structurally conserved and have certain key residues and a marked hydrophobic core. We know the ligand binding sites and the relative importance of the binding residues, and the residues at the dimerisation interface. Full Length GHRs 24 sequences ranging from fish to human provide a measure of the ability of nature to tolerate different amino acids at a position without affecting structure and/or function.
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10 - snpdisease1 - SNPs, Mutations, Structure and Disease...

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