Mutations Position Table
PSEN1 N135 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| N135S |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 5 | Neuropathology consistent with AD, including widespread neurofibrillary tangles and neuritic plaques. Some cotton-wool plaques; Mild amyloid angiopathy; Corticospinal tract pathology. |
Unknown, but multiple in silico algorithms predicted a damaging effect. |
Finckh et al., 2005 |
| N135D |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 5 | Brain biopsy showed mild loss of neurons and secondary gliosis with multiple neuritic plaques and abundant neurofibrillary tangles. |
Increased Aβ42/Aβ40 ratio in cell lines and in vitro; increases intracellular and secreted Aβ42 and decreases Aβ40 in cells; reduces both Aβ42 and Aβ40 production in vitro. |
Crook et al., 1997 |
| N135Y |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 5 | Postmortem findings consistent with AD. |
Increased Aβ42/Aβ40 ratio and decreased Aβ37/Aβ42 ratio in cells. Reduced levels of secreted Aβ40. |
Natelson Love et al., 2017 |
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