Figure 2: The outcome of the online software ‘SpliceAid’ (http://www.introni.it/splicing.html): The Nucleotide variation rs201992645 [(NG_007386.2:g.66696T>A or NM_000021.3:c. 868+37T>A) ss515119316] introduces a new binding site for a potent spicing factor “SC35”. In wild type pre m-RNA sequence of PSEN-1 intron-8, the nucleotide stretch “UGUAG” is changed to “AGUAG” in mutant, which is the binding site for this SC35 protein involved in intron slicing.