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?
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alex.rubinsteyn
1 answer
frameshift_truncation http://www.sequenceontology.org/miso/current_svn/term/SO:0001910
"A frameshift variant that causes the translational reading frame to be shortened relative to the reference feature."
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