Annotating a variant's effect: frameshift or nonsense?
1
1
Entering edit mode
9.9 years ago

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?

variant • 2.8k views
ADD COMMENT
2
Entering edit mode
9.9 years ago

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."

ADD COMMENT

Login before adding your answer.

Traffic: 1766 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6