Mutations Position Table
PSEN1 G209 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| G209A |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown; MRI showed global cortical atrophy and FDG-PET revealed widespread bilateral hypometabolism. |
Unknown; predicted likely damaging in silico by PolyPhen2, SIFT, and Provean. |
An et al., 2016 |
| G209E |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown, but MRI revealed global cerebral atrophy, particularly affecting the hippocampus. FDG-PET showed global hypometabolism, particularly affecting the temporal, parietal, and occipital lobes. |
Unknown, but multiple in silico algorithms predicted a damaging effect. |
Rogaeva et al., 2001 |
| G209V |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Neuropathology consistent with AD, includin cortical atrophy, extensive amyloid plaques and neurofibrillary tangles, and amyloid angiopathy. |
Abrogated Aβ40 production and drastically reduced Aβ42 production in vitro. Also, caused incomplete endoproteolytic processing of PSEN1. |
Poorkaj et al., 1998 |
| G209R |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown; imaging showed mild brain atrophy in temporal lobes at early stages and diffuse brain atrophy mostly in frontotemporal lobes at advanced stages. Hypoperfusion in frontotemporal areas at early stages extending to parieto-occipital areas at advanced stages. CSF Aβ38, Aβ40, Aβ42, Aβ43 levels and Aβ43/Aβ42 were high vs other FAD carriers. |
Abrogated Aβ40 production and drastically reduce Aβ42 production in vitro. |
Sugiyama et al., 1999 |
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