Mutations Position Table
PSEN1 P267 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| P267L |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown. |
Unknown, but predicted damaging by multiple in silico algorithms. |
Kowalska et al., 2003 |
| P267A |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Frequent neuritic plaques, including in the neocortex (Braak stage VI); Severe cerebral amyloid angiopathy. |
Decreased Aβ37/Aβ42, increased Aβ42/Aβ40, and increased Aβ43 in cultured cells. |
Ringman et al., 2016 |
| P267S |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Neuropathology consistent with Alzheimer's disease. |
Reduced γ-secretase activity; Increased cell cycle arrest. |
Alzheimer's Disease Collaborative Group, 1995; Hutton et al., 1996 |
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