Hi, I am not sure how to search up if a gene is non pathogenic on the gene data base. Under the clinical report, if it doesn't say pathogenic or likely pathogenic, does this mean that it is non-pathogenic? Also the the ones that are blank under the clinical report, when I click on them, it doesn't give me a residue change. How am I supposed to do the Non-pathogenic part of the experiment with these complications.
Thank you for reading this, and I appreciate your help!
From Genes to Genetic Diseases: What Kinds of Mutations Matter? Help needed
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nguyenmccarty
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Re: From Genes to Genetic Diseases: What Kinds of Mutations Matter? Help needed
Hi, there! If it's not listed as pathogenic / likely pathogenic, it most likely just means that there aren't data to specifically indicate that it is pathogenic; you should not assume that it is not pathogenic.
That said, I'm unsure what resource you're referring to. If you post a link to the resource, I can look at it and might be able to help you with the rest of your question!
That said, I'm unsure what resource you're referring to. If you post a link to the resource, I can look at it and might be able to help you with the rest of your question!
Re: From Genes to Genetic Diseases: What Kinds of Mutations Matter? Help needed
hi,
The link of the alleles data base for the CFTR gene is https://www.ncbi.nlm.nih.gov/variation/ ... Bgeneid%5D. I will really appreciate it if you could possibly reply today or early tomorrow morning. My science fair is tomorrow.
Thank you
The link of the alleles data base for the CFTR gene is https://www.ncbi.nlm.nih.gov/variation/ ... Bgeneid%5D. I will really appreciate it if you could possibly reply today or early tomorrow morning. My science fair is tomorrow.
Thank you
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nguyenmccarty
- Former Expert
- Posts: 53
- Joined: Thu Sep 21, 2017 11:09 am
- Occupation: University cell and molecular biologist
- Project Question: Ask an expert
- Project Due Date: n/a
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Re: From Genes to Genetic Diseases: What Kinds of Mutations Matter? Help needed
Ok, so too late to be useful for your science fair, but in case this information is helpful to anyone else:
As I mentioned in my first answer, I do believe that if the "Most severe clinical significance" space is blank for a given variant, you cannot conclude that it is non-pathogenic, only that no evidence indicating that it is pathogenic has been reported.
In terms of not finding a residue change listed: Not all mutations/variants cause a change in residue. If you look under the "Variant type" column, there are a number of possible changes in the gene. For example, copy number variation refers to a change in the number of copies of the gene detected. This would not change any amino acid residues in the resulting protein (but potentially change the amount of protein produced).
To get more information on a specific variant, click on the number/link under the "Publications" column. That will take you to the paper(s) reporting that variant, and you can read more about the observed effect of the variant.
As I mentioned in my first answer, I do believe that if the "Most severe clinical significance" space is blank for a given variant, you cannot conclude that it is non-pathogenic, only that no evidence indicating that it is pathogenic has been reported.
In terms of not finding a residue change listed: Not all mutations/variants cause a change in residue. If you look under the "Variant type" column, there are a number of possible changes in the gene. For example, copy number variation refers to a change in the number of copies of the gene detected. This would not change any amino acid residues in the resulting protein (but potentially change the amount of protein produced).
To get more information on a specific variant, click on the number/link under the "Publications" column. That will take you to the paper(s) reporting that variant, and you can read more about the observed effect of the variant.