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

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.