Mutations Position Table

PSEN1 T147 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
T147I
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown; predicted probably damaging in silico.

rs63750907
Coding
Exon 5
Point, Missense
ACT to ATT
0 Campion et al., 1999
T147P
Alzheimer's Disease, Ataxia Alzheimer's Disease : Not Classified

Unknown; neuroimaging showed widespread cortical atrophy, as well as atrophy in the medial temporal lobes, with less severe cerebellar atrophy.

Unknownn but multiple in silico algorithms predicted a damaging effect.


Coding
Exon 5
Point, Missense
ACT to CCT
0 Testi et al., 2014

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