Mutations Position Table

PSEN1 Q222 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
Q222R
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63750009
Coding
Exon 7
Point, Missense
CAG to CGG
0 Rogaeva 2001
Q222H
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63751072
Coding
Exon 7
Point, Missense
CAG to CAC
0 Miklossy 2003