Mutations Position Table

PSEN1 E280 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
E280A
(Paisa)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD, including severe brain atrophy, Aβ pathology, and hyperphosphorylated tau tangles. Aβ42 may be particularly abundant in the cerebral cortex, hippocampus, cerebellum, midbrain, and basal ganglia. Frequent CAA and cerebellar damage including ubiquitin–positive plaques, reactive astrocytes, and dystrophic neurites.

Elevated Aβ42 and Aβ42/Aβ40 ratio.

rs63750231
Coding
Exon 8
Point, Missense
GAA to GCA
0 1995;
Lopera 1997;
Lemere 1996
E280G
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic

Frequent cotton-wool plaques and vascular amyloid deposits. Some cases with white-matter abnormalities and degeneration of the corticospinal tract.

Increased Aβ42 and Aβ42/Aβ40 ratio.

rs63750231
Coding
Exon 8
Point, Missense
GAA to GGA
0 1995;
O'Riordan 2002
E280K
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; MRI showed generalized brain atrophy, including atrophy of the hippocampus.

Unknown; predicted to be probably damaging in silico.


Coding
Exon 8
Point, Missense
GAA to AAA
0 Ch'ng 2015