Science Buddies: "Ask an Expert"

Hello i am doing the project From Genes to Genetic Diseases: What Kinds of Mutations Matter?
I am trying to test the non-pathogenic alleles for the gene LRRK2 but i really cant figure out where the mutation is stated like it is in the pathogenic ones.
Thanks

In reference to my question from January 10th, when looking at the Non-pathogenic alleles, the mutation seems to be a single nucleotide insertion with no frame shift. Is that correct?
Thanks

Note from moderator: Lindsay, as you can see, I merged your two questions into one topic. Please keep your questions on this topic here so the experts can follow the conversation! Thanks!

Hi Lindsay,

Where on the NCBI website were you trying to view the different mutations? The information on their website (such as through the ClinVar submenu) tells you where the mutations are and what significance they have on patients. Let us know and we will try to help you more.

Best,
Pharma

Hi,

Yes you are correct. Mutations involved a change in one nucleotide in a sequence. If the changed nucleotide does not code for a different amino acid, the there's no problem. If the amino acid is changed, then the protein structure and function could be affected.

Donna

https://www.ncbi.nlm.nih.gov/variation/ ... 92[geneid]
This is the URL for the ncbi database for the gene lrrk2. When clicking on one of the nonpathogenic, (heres a link) https://www.ncbi.nlm.nih.gov/projects/S ... s=61931633
I am stumped on where the mutations is stated. If you could explain that'd be great.
Thanks

I see what you mean about the ClinVar section and that helped a lot thanks! But when they state the mutations in those without the Pathogenic box checked, they are labeled Uncertain Significance. Should I put this under the Non-pathogenic section of my project?

hI,

I sounds like you are making great progress. The mutations that are of unknown clinical significance code for a different amino acid, but the effect on the function of the protein is unknown. So, you should probably not classify these as nonpathogenic. I recommend adding another category of "unknown clinical significance."

Donna

Thanks for the responses. I have one last question... What type of statistics test can I run for this data?