More posts like this
-
Protein prediction tool
written by nickmarinakis92 •Hello, I would like to ask you if there is a prediction tool for stop loss mutations. I have a stop loss variant that is …
-
CNV Profile figure
written by tanbiswas6 •Hi, I'm using Control-FREEC to identify CNVs. After installing I've used a sample data whose CNV profile looks like the figure below (link provided) where …
-
How to retrieve/extract specific intergenic regions?
written by geizetomazetto •Hi Folks, A database was constructed for a target protein sequences, including protein_ID, start codon, stop codon, BioSample, and Assembly Accession. It means, the data …
-
VEP output and stop gain mutation
written by setaHi all, I annotated some variations (SNP) using VEP, there are two stop gain mutations, one at 2nd amino acid and another at the 110th …
-
put a vcf in a library
written by Dayna •Hi every one What does it mean 'put your vcf in a library' and how to do that? Thanks
-
The exon of a variant
written by Dayna •Hi every one I have a very interesting variant, it aa.change is reported as : SLC2A5:NM_001135585:exon3:c.C142T:p.Q48X,SLC2A5:NM_003039:exon3:c.C142T:p.Q48X,SLC2A5:NM_001328619:exon4:c.C142T:p.Q48X So the cDNA change is c.C142T , p.Q48X. What …
-
predict deleteriousness of nonsense variants
written by janHi, Is there any good prediction tools that can predict deliriousness of nonsense variants? Im trying to prioritize germline variants that might be potentially pathogenic …
-
why GATK generates more SNP than samtool does
written by CYCould anyone explain to me why GATK generates far more SNPs than samtools does? I heard GATK is permissive one SNP calling. I just could …
-
Which To Consider As Non-Sense Mutation From Annovar Output?
written by ivivek_ngs<p>Dear All,</p> <p>I have a question regarding prioritizing the variants after annotating them with ANNOVAR. I am interested in selecting only the non-sense mutations. So …
-
Stop-Gain Mutation Predicted As Benign By Sift/Polyphen2?
written by michealsmith<p>I've found a stop-gain mutation(in coding region) very close to the 5' end of mRNA (the second exon while the whole protein may have 10+ …
because some extra amino acids could break the conformation of the protein -> active domain is broken.
closing as it's not related to bioinformatics.
Hello Dayna!
We believe that this post does not fit the main topic of this site.
I'm closing this question as it's not related to bioinformatics.
For this reason we have closed your question. This allows us to keep the site focused on the topics that the community can help with.
If you disagree please tell us why in a reply below, we'll be happy to talk about it.
Cheers!
Why a stoploss mutation is not related to bioinformatics? Shouldnot we understand the type of mutations we try to discover from data?
Because it's a basic concept of molecular biology, you would expect to find in good text books on the topic. As a rule of thumb, we do not attempt to explain basic concepts of molecular biology on this site that have better explanation elsewhere.