Mutations Position Table

PSEN1 Y154 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
Y154N
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic [MET1] g.25663T>A
[NT1] g.42217T>A
rs63750588
Coding
Exon 5
Point, Missense
TAT to AAT
0 Hattori 2004
Y154C
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.25664A>G
[NT1] g.42218A>G
rs63751292
Coding
Exon 5
Point, Missense
TAT to TGT
0 Janssen 2003