Mutations Position Table
PSEN1 P267 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Coding/Non-Coding | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|---|
| P267L |
Alzheimer's Disease | AD : Not Classified | Unknown. |
Unknown, but predicted damaging by multiple in silico algorithms. |
rs63750779 |
Coding | Exon 8 | Point, Missense CCA to CTA |
0 | Kowalska et al., 2003 |
| P267A |
Alzheimer's Disease | AD : Pathogenic | 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. |
Coding | Exon 8 | Point, Missense CCA to GCA |
0 | Ringman et al., 2016 | |
| P267S |
Alzheimer's Disease | AD : Pathogenic | Neuropathology consistent with Alzheimer's disease. |
Reduced γ-secretase activity; Increased cell cycle arrest. |
rs63751229 |
Coding | Exon 8 | Point, Missense CCA to TCA |
0 | Alzheimer's Disease Collaborative Group, 1995; Hutton et al., 1996 |
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