variant calling
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18 days ago

Good morning,

I hope you can help with this.

I'm struggling to understand this type of mutation. All of them are insertions:

Variant 1: E203-DE-V204
Variant 2: E203-VE-V204
Variant 3: Glu203_Val204insAspGlu

How can I interpret them? And does Variant 3 replace Variant 1 and Variant 2?

Thank you in advance :)

variant-calling • 558 views
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Do not delete posts that have received feedback. You asked for and received help - trying to hide that is cheating. Please be open with your professor, no one is going to judge you for seeking help.

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Also, please stop editing your post to redact content; that is also a bit like cheating.

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No, variant 3 does not replace variants 1 and 2. The three variants represent different types of mutations or variations in the amino acid sequence of a protein. Seems Variants 1 and 2 involve specific amino acid substitutions at positions 203 and 204; Variant 3 indicates a different type of mutation involving an insertion of amino acids between positions 203 and 204. So, while variants 1 and 2 represent specific amino acid substitutions, variant 3 represents an instance of amino acid insertion.

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what I can confirm you is that variant 1 and 2 are insertions not substitutions

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9851517/

Indeed, in this paper they talk about insertions, it's true even though it's a strange nomenclature, perhaps it's the first time I've seen it. If you look at the paper's image, it seems that glutamate and valine have been inserted between glutamate at 203 and valine at 204, a similar case for DE. Whereas Variant 3: Glu203_Val204insAspGlu could indicate that there has been an insertion where an aspartic acid (Asp) and a glutamic acid (Glu) have been inserted respectively at positions 203 and 204, while valine (Val) has been substituted by glutamic acid. Are they referring to the same sequence of a sample or have they been found in different samples of different species? Sorry for the perhaps trivial question.

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thank you !!!

Could you please delete the link to the article

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Why are you requesting someone edit their comment to delete specific stuff? What do you stand to gain from that edit?

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Because I'm a student, our professor emphasized the importance of working independently, even when making mistakes. However, I'm not entirely convinced by his opinion as I believe sharing knowledge is essential. Nonetheless, we are required to adhere to his rules in class. That's why I'm asking if Mr marco.barr could conceal this information.

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That's not the right way to do this. You either never ask for help or acknowledge the help you receive. Asking someone that helped to pretend like they did not is an insult to the person that helped and to the knowledge you acquired. I'm sure your professor did not mean "don't ask for help" when they emphasized the important of working independently, but talk to them - that's your solution, not asking for evidence of help to be removed.

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