How To Determine The Effect Of A Nonframeshift Deletion

Question

[Biostar User]

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

Answer 1

[Chris Miller]

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

Answer 2

[DG]

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.