Science Buddies: "Ask an Expert"

Good Morning,
I am working on the project "Bioinformatics- The Perfect Marriage of Computer Science and Medicine". In this project, I am researching about coronary artery disease and its SNP's through the various web-based bioinformatics resources. However, I am stuck on #5 of the procedure. It asks to choose a SNP in an Exon that is missense but there are no exons listed. Could you please give me a hint as how to proceed?
Thank you,
Anh Do

Hi there!

I'm afraid I don't much experience with the ncbi website. I can tell that it seems they've changed some things around since the directions for your project was made up though. You could try Googling the name of your gene, followed by exons. I did this for the SORT1 gene, associated with coronary artery disease and found a few links that might lead you to the right place.

https://www.google.com/search?q=sort1+e ... e&ie=UTF-8

Just replace SORT1 with whatever gene you've chosen. I don't know if this is much help, but hopefully it's something you can use. Maybe someone else with more experience with the NCBI database can be of more help.

Hi!
Thanks for your help. Since I am researching coronary artery disease, I was wondering what happens to the genome of people with coronary artery disease. Does it break down into pieces? How does it affect these people?
Thank you,
Anh

Hello,
I am still working on this project on researching coronary artery disease and the SNPs related to it. I was wondering if a SNP results in a mutation in a protein domain,what could be the biochemical effects of the mutation? How could these biochemical effects be related to coronary artery disease? Could you please help me on these questions?
Thank you for your help,
Anh

Hello!
I am working on this Bioinformatics project, where I am researching about coronary artery disease and its SNPs through various resources. However, I am still unclear about a few things. I was wondering that if two genes are homologous, then are they similar? If they are similar, then would that mean they both have the same SNPs, which could possibly mean that the gene would have the same mutations? How is this possible?
Thank you for helping,
Anh Do

Hello,
In regards to a mutation...that really depends on where the mutation occurs as to the effect on the protein. If it is a silent mutation, meaning the amino acid does not change as a result, then there may be no effect on the protein. If there is a change in the amino acide then this could cause a variety of issues. It could keep the protein from folding correctly, which could affect the way it interacts with other proteins. I would look at what causes the disease you are studying. If it is an issue with a protein, then that could be caused by a mutation. Hope this helps.

Katie

Good morning!
Thanks for answering my question. So is it possible that an SNP cause a silent mutation in a protein? Therefore would this SNP have any affect on the protein?
Thanks again
Anh

Hi Anh,

You are correct, it is possible for a SNP to cause a silent mutation that does not change the amino acid coded for, and in this case, the SNP would NOT have any affect on the protein.

Hope this helps,
JMP