Table 1.
Impact of rs200538373 on ABCA7 exon 41 splicing. This SNP is at position 5, in parenthesis, within intron 41 and is predicted to weaken the splice site, i.e., the prototypic splice donor sequence is CAG/gtragt (exon in upper case, intron in lower case, r = purine).
| Exon 41 Splicing | Splice Site Sequence (splice site at ^) | Splicing Score |
|---|---|---|
| Normal Splice Site Major G allele |
CAG^gtga(g)g | 10.07 |
| Normal Splice Site Minor C allele |
CAG^gtga(c)gggtgccaggtaggg | 7.66 |
| Aberrant Splice Site Extended Exon 41 |
CAGgtga(g/c)gggtgccag^gtaggg | 9.46 |