Genetic Diseases Project HELP NEEDED ASAP

[deleted-116591]

HELP NEEDED ASAP --- From DNA to Amino Acids:questions 2d through f2. The procedure is telling me to fill out table 1,the example table does not have Codon Sequence Change for DNA or the Codon Sequence Change for mRNA filled out. I've looked a lot for the Codon sequence change for DNA and the Codon Sequence Change for mRNA but I cannot find it on the ncbi site that I was told to go to. Am I supposed fill out the two missing columns?And if so where do I find the information?

[deleted-140482]

Hi,

You seem to be doing the Science Buddies project, "From Genes to Genetic Diseases: What Kinds of Mutations Matter?" right? The procedures section at this website: https://www.sciencebuddies.org/science- ... #procedure does include a sample Table 1 in which Codon Sequence Change (DNA) and Codon Sequence Change (mRNA) has been filled out for a few example mutations that can occur in the CFTR gene. The examples that are filled in do not cause disease, and thus are called non-pathogenic. In the first example, "1408G>A" the mutation is an A in place of the G that is normally present. So under "Codon Sequence Change (DNA)", it shows that GTG (in the normal gene) becomes ATG. The same thing happens in the mRNA, but remember that RNA does not use T bases and instead uses a U, so in the mRNA the codon change would be from GUG → AUG. You get these sequences by looking in the ncbi database for what the sequences are at the sites of mutations. It looks to me like you could find your way to the right spot by working your way through the tutorial. I went directly to this site: http://www.ncbi.nlm.nih.gov/snp and searched for the rsID code that was included in the table and was able to find the mRNA codon change on that page, as well as a number of the other pieces of information that Table 1 asks for.

I'm not sure how helpful I've been. If you're still having trouble finding what you are looking for, I encourage you to go through the tutorial from the beginning. You don't say whether you are trying to do this procedure on a disease other than cystic fibrosis, but if you are or if you are still having trouble, please post again here with as many details as possible, and we'll be happy to help.
Good luck!
JMP

[deleted-336409]

I am currently working on the same project right now also. I was wondering where I could find the information for if the amino acids' mutations made an impact or not. Also for table 1... how do you fill in the transcript mutation? where do you find the information?

[deleted-291782]

Hello,

To find whether or not a mutation can result in an altered phenotype, I would do a search about the particular mutation either through sources such as Google Scholar or PubMed. This way, you should have access to publications describing the effects of certain genetic mutations (if they do or do not have any effect). Additionally, you can also check out the tutorial from the Science Buddies page for this project:

https://www.sciencebuddies.org/science- ... #procedure

The tutorial gives a run-down on how to use the NCBI website and how to gather all of the information you will need.

Let us know if you have further questions and we'll be happy to help.

Best,
Pharma