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 [MET1] g.50035C>T
[NT1] g.66641C>T
rs63750324
Coding
Exon 8
Point, Missense
CCA to TCA
0 Marrosu 2006
P284L
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic

Cotton wool plaques.

[MET1] g.50036C>T
[NT1] g.66642C>T
rs63750863
Coding
Exon 8
Point, Missense
CCA to CTA
0 Tabira 2002