What does "hfs" or "efs" stand for in amino acid changes?
1
0
Entering edit mode
22 months ago

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!

hgvs amino acid efs hfs • 488 views
ADD COMMENT
2
Entering edit mode
22 months ago

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/

ADD COMMENT

Login before adding your answer.

Traffic: 2988 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