What does "hfs" or "efs" stand for in amino acid changes?
Hello,
I am searching for amino acid changes for certain variants.
I don't get the meaning of several results. For example, p.P350Hfs21 and p.K468Efs18
What does Hfs or Efs mean here? I have searched for the HGVS website (https://www.hgvs.org/mutnomen/examplesAA.html), but couldn't get the meaning of it.
Thanks for your help!
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1 answer
fs means frameshift.
If you have p.P350Hfs21 this means:
- the coding triplet 350 changes from Prolin to Histidin
- furthermore you have a frameshift (due to deletions/insertions) resulting in a Stop codon 21 codons later
See also here: http://varnomen.hgvs.org/recommendations/protein/variant/frameshift/
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