Can someone help me answer this question? It is due tonight. In this assignment,

Question

Can someone help me answer this question? It is due tonight.

In this assignment, you will go to a database and retrieve information on mutations in the fibrillin-1 (FBN1) gene. Mutations in this gene cause Marfan Syndrome in humans. Go to the entry for the FBN1 gene in the Online Mendelian Inheritance in Man http://www.omim.org/entry/134797?search FBN1&highlight-fbn1; There is a Table of Contents menu on the left side. Look for "Allelic Variants" and then click on Table View which is under Allelic Variants. This takes you to a page with a table of mutations that have been found in this gene in patients with Marfan Syndrome. Each mutation has a four-digit ID number, for example.0003 When you click on the ID Number, you will be taken to another page that has a more detailed description of the mutation The Assignment is to find one example of each of the following: A. missense mutation B. nonsense mutation C. frameshift. D. in-frame deletion E. splice site mutation For each category, submit the ID number of one mutation that fits the category. Upload this assignment as a single file, either doc or pdf. Tips: Go through the Table View and when you find a mutation that looks like one you need, click on the ID number and read the details about it to make sure. Some of the abbreviations uses are: . DEL= deletion INS- insertion TER- a mutation that creates a stop codon VSintervening sequence, i.e. intron

Explanation / Answer

Mis sense mutation id is .0068

Non sense mutation Id is :.0033

Frame shift mutation Id is: .0029

In frame deletion Id is : .0069

Splice site mutation is : .0070

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