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. Author manuscript; available in PMC: 2018 Apr 9.
Published in final edited form as: J Alzheimers Dis. 2017;59(2):633–641. doi: 10.3233/JAD-170872

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