Mutations Position Table
PSEN1 S230 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| S230R |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | SPECT imaging showed bilateral parietal hypoperfusion, more marked on the left side. Postmortem evaluation revealed neuropathology consistent with AD, including advanced plaque and tangle pathology (CERAD C, Braak VI). |
Unknown, but multiple in silico algorithms predicted a damaging effect. |
Sassi et al., 2014 |
| S230I |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown. |
Drastically decreased Aβ42 production and abrogated Aβ40 production in vitro. |
Wallon et al., 2012 |
| S230N |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown, but MRI showed diffuse atrophy, which was most severe in lateral temporal lobes and insulae. |
Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. |
Ringman et al., 2017 |
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