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bioinformatics_exercise_2_F11_solutions - Bioinformatics...

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Bioinformatics Exercise: Solutions Due 20 October 2011 For all three genes, there are multiple possible reasonable answers for predicted effects of the SNP. The solution given is an example of a plausible effect. Presenilin 1 (Alzheimer’s, PSEN1) located on the long arm of chromosome 14 The function of PSEN1 is poorly understood, but it is found in the brain, and may play a role in cell to cell connections or communication. This SNP changes a proline into a hydrophilic glutamine, which alters both the charge and conformation of the protein.
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Sickle cell anemia (HbB, hemoglobin) located on the short arm of chromosome 11 The function of the hemoglobin genes is to produce one of the four subunits that form the hemoglobin tetramer. Hemoglobin is responsible for transporting oxygen
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bioinformatics_exercise_2_F11_solutions - Bioinformatics...

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