Question: How to interpret mutation mapper in CBioportal for mutation?
1
gravatar for mangfu100
5.3 years ago by
mangfu100730
Korea, Republic Of
mangfu100730 wrote:

Hi all.

I have detected somatic mutation and would like to know its significance for clinical interpretation.

I used MutationMapper in cBioPortal and then got a set of annotated mutations with plot as shown in below.

As you can see, there are a protein domains in the plot with yellow color and all the mutations are on its domain.

and my questions is below : 

The segments that do not belong to yellow domains whose color is grey have no meaning for clinically annotating mutation? so I discard it unconsciously?

sequencing sequence next-gen • 2.6k views
ADD COMMENTlink modified 5.3 years ago by Sean Davis26k • written 5.3 years ago by mangfu100730
2
gravatar for Sean Davis
5.3 years ago by
Sean Davis26k
National Institutes of Health, Bethesda, MD
Sean Davis26k wrote:

Your question is an important one without a definitive answer. In terms of clinical annotation, protein domain is just one of MANY, MANY potential features for prioritization. In practice, I would not discard mutations that are not in a known domain. 

 

ADD COMMENTlink written 5.3 years ago by Sean Davis26k
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