Splice site mutation

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A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing of an intron takes place during the processing of precursor messenger RNA into mature messenger RNA. The abolishment of the splicing site results in one or more introns remaining in mature mRNA and may lead to the production of aberrant proteins. Several genetic diseases may be the result of splice site mutations. For example, mutations that cause the incorrect splicing of β-globin mRNA are responsible of some cases of β-thalassemia. Another Example is TTP (thrombotic thrombocytopenic purpura). TTP is caused by deficiency of ADAMTS-13. A splice site mutation of ADAMTS-13 gene can therefore cause TTP. Splice site mutations can be analyzed using information theory .[1]


  1. ^ Hum Mutat. 1998;12(3):153-71. Information analysis of human splice site mutations. Rogan PK, Faux BM, Schneider TD. http://www.ncbi.nlm.nih.gov/pubmed/9711873 http://alum.mit.edu/www/toms/paper/rfs/