Mutations Position Table

PSEN1 P267 Mutations

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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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