Mutations Position Table

PSEN1 P436 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
P436S
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63749925
Coding
Exon 12
Point, Missense
CCA to TCA
0 Palmer 1999
P436Q
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD in at least one mutation carrier, including frequent Aβ plaques, many of the cotton-wool type, and severe neurofibrillary tangle pathology (Braak and Braak stage VI).

Unknown.

rs121917808
Coding
Exon 12
Point, Missense
CCA to CAA
0 Taddei 1998