Result of genetic testing indicated: c.341del, p.Thr114Lysfs*37. The c.341del probably means:deletion at the cDNA 341 nucleotide. Buy what does the second part:p.Thr114Lysfs*37 ?

  • $\begingroup$ I think this question could use additional context. Please update with some more detail. Also, we ask that all question aksers do some of their own research and report what they've already learned or tried. Please take the time to see what you can find on your own, and the community can try to help you if you get stuck. $\endgroup$ – theforestecologist Mar 19 at 17:21

You are right about the cDNA 341 nucleotide deletion.
It is an exon deletion, meaning that the deletion is part of a gene that encodes to a protein.
This corresponds to the second part - the protein level (annotated with p.).
The mutation that is caused on the protein level is a frameshift mutation (corresponds to the fs).
A frameshift mutation changes the reading frame of the protein. You can find more information on frameshift mutations annotations on the HGVS nomenclature website.

In your case (p.Thr114Lysfs*37) the annotation indicates that the cDNA 341 nucleotide deletion led to a frameshift mutation of the protein with a Thr amino acid residue being replaced by a Lys amino acid residue. Furthermore, this also altered when the protein terminates: there is a new translation termination (stop) codon after 37 amino acid residues instead of terminating at the end of the protein where it normally does.

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    $\begingroup$ (+1). And just to clarify, the presence of a stop codon may be indicated by an asterisk or by 'Ter'? pThr114Lysfs*37 and pThr114LysfsTer37 are equivalent? And 37 includes the modified amino acid (there are 36 after the Lys)? Great ref, thanks $\endgroup$ – user1136 Mar 20 at 0:57
  • $\begingroup$ Great additional information. You are right about all of your questions, according to the ref. $\endgroup$ – rafiko1 Mar 20 at 11:43

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