25 Jun The Human BRAF Gene
Question
INTRODUCTION TO COMPUTATIONAL BIOLOGY
How can I answer the following questions using NCBI of human bRAF gene:
Find variations in your gene and collect them in 4 groups: 1) phenotype-changing, 2) silent mutations in coding region, 3) mutations changing only pre-mRNA, but not changing protein and 4) mutations you find in the regulatory region. Please submit at least 5 variations for each group.
What effect the mutations from each of the group will have on protein function, please describe in few sentences.
Find the mutations related to disease conditions. Please describe every relation. In case if there are too many of them, describe at least 4.
From the list in #4 choose two genes, which are most involved in causing the disease on your opinion and describe their functions and phenotype-genotype relations.
What would be a molecular mechanism of the disease, in other words, how your gene and the two related genes you choose in #5 are function together and/or malfunction.For example, if your gene is BPTI, and BPTI is an inhibitor of trypsin, then any mutations in either BPTI or trypsin binding interface will affect the formation of resulting complex of these two proteins. You can include more the just your protein and those two you choose, just describe hoe variation affects the functionality.
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