Mutations Position Table

PSEN1 Y154 Mutations

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 rs63750588
Coding
Exon 5
Point, Missense
TAT to AAT
0 Hattori et al., 2004
Y154C
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63751292
Coding
Exon 5
Point, Missense
TAT to TGT
0 Janssen et al., 2003

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