Mutations Position Table

PSEN1 E280 Mutations

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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, amyloid-β 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/Aβtotal ratio.

[MET1] g.50024A>C
[NT1] g.66630A>C
rs63750231
Coding
Exon 8
Point, Missense
GAA to GCA
0 1995;
Lopera 1997
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 the Aβ42/Aβ40 ratio.

[MET1] g.50024A>G
[NT1] g.66630A>G
rs63750231
Coding
Exon 8
Point, Missense
GAA to GGA
0 1995;
O'Riordan 2002