Mutations Position Table

PSEN1 P436 Mutations

Tools

Back to the Top
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 [MET1] g.71110C>T
[NT1] g.87721C>T
rs63749925
Coding
Exon 12
Point, Missense
CCA to TCA
0 Palmer 1999
P436Q
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic [MET1] g.71111C>A
[NT1] g.87722C>A
rs28930977
Coding
Exon 12
Point, Missense
CCA to CAA
0 Taddei 1998