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?
1 answer
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.
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written
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Sean Davis
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