Question: How To Determine The Effect Of A Nonframeshift Deletion
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7.3 years ago by
Biostar User10
Biostar User10 wrote:

Hi

I am analyzing the exome seq data and I have identified a nonframeshift deletion within a gene. is there any software to check if this nonframeshift mutation change the proteins structure or is it is deleterious or if it is important to consider?

Thank you Sara

software • 2.7k views
ADD COMMENTlink modified 7.3 years ago by DG7.1k • written 7.3 years ago by Biostar User10
1
gravatar for Chris Miller
7.3 years ago by
Chris Miller21k
Washington University in St. Louis, MO
Chris Miller21k wrote:

Annotate your variant with a prediction tool. VEP is one good choice: http://useast.ensembl.org/info/docs/variation/vep/index.html

ADD COMMENTlink written 7.3 years ago by Chris Miller21k
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gravatar for DG
7.3 years ago by
DG7.1k
DG7.1k wrote:

The various standard annotation programs will take in to account how conserved that residue is within mammals, vertebrates, animals in general, etc (PhyloP, MutationTaster, GERP++, etc) but these tools are most useful for giving you a rough idea of the effect of variants in a dataset when prioritizing.

ADD COMMENTlink written 7.3 years ago by DG7.1k
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