genetic mutation abbreviations - (Sep/19/2012 )
I was just wondering if someone could please explain what the following mutations mean? Thanks
I'm really confused
Not sure about the first, that two nucleotides starting on the position 2362 were replaced by hexanucleotide, so deletion-insertion?
The other two are deletions (delta symbol).
Third is deletion of two nucleotides at positions 2069 and 2070, the second one probably deletion of three nucleotides starting at the position 140. Or alternatively it could be codon number, and deletion of entire codon, but that would be pretty confusing.
However it's not a standard human nomenclature, none of those.
Thanks for replying i was just wondering if you would be so kind to clarify what positions the number refer to- is it intron?
I can't tell.
Intron mutations should be named as + or - from the end/start of nearby intron (like .77+2T>A), but this doesn't seem to follow any rules. It could be position of a nucleotide in DNA sequence, RNA sequence (transcript).. I don't know. That's what the standard nomenclature is for, it specifies all of this.