Mutations Position Table

PSEN1 L282 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L282V
Alzheimer's Disease, Cerebral Amyloid Angiopathy Alzheimer's Disease : Pathogenic

Extensive neurofibrillary tangles and amyloid deposits including both dense-cored plaques and diffuse plaques. Severe cerebral amyloid angiopathy (CAA) in the neocortex, hippocampus, and cerebellum. CAA deposits associated with dystrophic neurites and inflammatory gliosis. Severe white-matter loss. Cerebellar amyloid pathology associated with severe CAA and loss of Purkinje cells.

A twofold increase in the Aβ42/Aβ40 ratio compared with cells expressing wild-type PSEN1.

rs63749937
Coding
Exon 8
Point, Missense
CTT to GTT
0 Dermaut et al., 2001
L282F
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; MRI showed mild medial temporal atrophy. FDG-PET showed glucose hypometabolism in the bilateral parietal cortices and posterior cingulate gyri.

Unknown.


Coding
Exon 8
Point, Missense
CTT to TTT
0 Hamaguchi et al., 2009
L282R
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with Alzheimer's disease.

Unknown.

rs63750050
Coding
Exon 8
Point, Missense
CTT to CGT
0 Aldudo et al., 1998

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