realizing the sequencing of scrapie gene in goat I find a deletion, I expect to have a shift in the reading frame or I find nothing. is this possible if the mutation is in an intronic region !!!
if the size of the deletion is a multiple of 3 bases in an exonic deletion there will be no frameshift. deletions in the intron can be any size but so long as they do not involve the splice sites then there will be no effect on the gene product. The genome is full of deletions not in genes and mostly they have no measurable effect
if the size of the deletion is a multiple of 3 bases in an exonic deletion there will be no frameshift. deletions in the intron can be any size but so long as they do not involve the splice sites then there will be no effect on the gene product. The genome is full of deletions not in genes and mostly they have no measurable effect
Thank you, but the mutation concerne only one nucleotide
A single base pair deletion in an intron near to the splice site can affect the splicing of the gene resulting in an abnormal protein. If the next available slice site is 'in frame' then the resultant protein can gain 'or lose' considerable number of amino acids, but remain in frame from the splice point onwards. You don't say whether this is a CDNA or genomic DNA resequencing?
it would be interesting to see the change in the sequence just in case it caused a new splice site but it is understandable that you may want this result out of the public domain
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