Mutations Position Table

PSEN1 I439 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
I439V
Alzheimer's Disease Alzheimer's Disease : Likely Pathogenic

Unknown.

In vitro, moderately increased Aβ40 and Aβ42 production; Aβ42/Aβ40 ratio unchanged. In cells, increased Aβ42 secretion; Aβ42/Aβ40 unchanged.

 

rs63750249
Coding
Exon 12
Point, Missense
ATC to GTC
0 Rogaeva et al., 2001
I439S
Alzheimer's Disease Alzheimer's Disease : Not Classified

Unknown, but MRI showed diffuse cortical atrophy in one case.

Unknown, but PolyPhen analysis predicted the mutation is possibly damaging.


Coding
Exon 12
Point, Missense
ATC to AGC
0 Gómez-Tortosa et al., 2010

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