Mutations Position Table

PSEN1 P284 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
P284S
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic rs63750324
Coding
Exon 8
Point, Missense
CCA to TCA
0 Marrosu 2006
P284L
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic

Prominent cotton-wool plaques in the cerebral cortex, basal ganglia, brainstem, and spinal cord. Some dense core plaques, primarily in the hippocampus and cerebral cortex. Vacuolar changes. Amyloid angiopathy. Neurofibrillary tangles. Mild neuritic changes and gliosis.

Unknown.

rs63750863
Coding
Exon 8
Point, Missense
CCA to CTA
0 Tabira 2002