So what does 1525-1G>A mutation in the same Cystic fibrosis mean?
how can in refer to a splice mutation?
hi, the nomenclature 1525-1G>A points to a genetic variation at position -1 respective to position 1525 with a changing of G to A. The idea being that you are counting from the start of the cDNA with A in ATG being number 1 (one). To give this any useful meaning position 1525 should be the first position in an exon and the G should be the G of the invariant 3´- AG of the preceding intron. The correct nomenclature would be c.1525-1G>A with c. indicating cDNA - according to HGVS. But non-the-less, if looking to the CFTR sequence using transcript variant NM_000492.3 position 1525 would be in the middle of exon 10 i.e. something is wrong!
Please see, http://www.hgvs.org/mutnomen/ for an explanation of mutation nomenclature.
Bahrouz M. A. Al- Jaff
University of Sulaimani
Odense University Hospital
deCODE genetics, Inc.
International Islamic University Malaysia
King George's Medical University
University of Plymouth
Sheikh Khalifa Specialty Hospital
Helen K. Chadwick
University of Leeds