Mutations Position Table

PSEN1 P267 Mutations

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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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