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 : Unclear Pathogenicity

Unknown.

Unknown.

rs63750249
Coding
Exon 12
Point, Missense
ATC to GTC
0 Rogaeva et al., 2001
I439S
Alzheimer's Disease Alzheimer's Disease : Pathogenic
Coding
Exon 12
Point, Missense
ATC to AGC
0 Gómez-Tortosa et al., 2010