Mutations Position Table

PSEN1 Q222 Mutations

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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 [MET1] g.44684A>G
[NT1] g.61290A>G
rs63750009
Coding
Exon 7
Point, Missense
CAG to CGG
0 Rogaeva 2001
Q222H
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.44685G>C
[NT1] g.61291G>C
rs63751072
Coding
Exon 7
Point, Missense
CAG to CAC
0 Miklossy 2003