Question: Annotating a variant's effect: frameshift or nonsense?
gravatar for alex.rubinsteyn
5.7 years ago by
United States
alex.rubinsteyn130 wrote:

I'm looking at a mutation which, due to a frameshift, immediately introduces a stop codon. When describing the effect of this mutation would you call it a "frameshift", a "nonsense" mutation, or some hybrid of the two?


More broadly, I'm trying to figure out the right terminology for talking about protein-level variant effects but finding the basic terms seem to sometimes overlap. A frameshift can, in effect cause the premature insertion of a stop codon, or the substitution of the tail of a coding sequence with some other sequence. How do we differentiate these two cases?

annotation effect variant • 2.0k views
ADD COMMENTlink modified 5.7 years ago by Pierre Lindenbaum130k • written 5.7 years ago by alex.rubinsteyn130
gravatar for Pierre Lindenbaum
5.7 years ago by
France/Nantes/Institut du Thorax - INSERM UMR1087
Pierre Lindenbaum130k wrote:


"A frameshift variant that causes the translational reading frame to be shortened relative to the reference feature."

ADD COMMENTlink written 5.7 years ago by Pierre Lindenbaum130k
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