Mutations Position Table

PSEN1 I439 Mutations

Tools

Back to the Top
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 [MET1] g.71119A>G
[NT1] g.87730A>G
rs63750249
Coding
Exon 12
Point, Missense
ATC to GTC
0 Rogaeva 2001
I439S
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.71120T>G
[NT1] g.87731T>G

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