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Gene mutation 2896insAG
- Question
- Hello,
I have a question, namely my friend has the mutation 2896insAG and we do not really know what to do with this mutation. Is this a stop mutation? Do stop mutations always end with X? If yes, the first question is already answered.
Can you tell me something about this mutation? The other is dF508.
Many thanks and with best regards,
V. - Answer
- Dear questioner,
the short version: the mutation 2896insAG is an insertion mutation with a frame shift that generates then a stop mutation (this has then X at the end of its name).
And this happens like this:
at first the sequence of nuclein acids is numerated - behind the position 2896 there are in case of 2896insAG two additional elements A and G, that do not occur in the functioning CFTR at this place. As a next step the cell translates the message of the nuclein acids into a protein, for this always 3 nuclein acids in a row are used for one element of the protein. From 2896 on, there are the additonal nuclein acid elements "A" and "G", therefore the cell reads unfortunately in the next triplet no "enlongate the protein" but "here is the end now".
2896insAG is indeed a rare, but a typical CF mutation.
Best regards,
Frauke Stanke - 22.12.2014
