Mutations Position Table

PSEN1 L424 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L424V
Atypical Dementia Alzheimer's Disease : Pathogenic, Atypical Dementia : Pathogenic

Unknown; CT and SPECT imaging showed diffuse cortical and subcortical atrophy and hypoperfusion affecting the frontal, temporal, and parietal lobes.

Unknown.


Coding
Exon 12
Point, Missense
CTC to GTC
0 Robles 2009
L424F
Alzheimer's Disease Alzheimer's Disease : Pathogenic
Coding
Exon 12
Point, Missense
CTC to TTC
0 Mehrabian 2006
L424H
Alzheimer's Disease, Atypical Dementia Alzheimer's Disease : Pathogenic

Unknown; generalized cerebral atrophy by MRI; diffuse cerebral hypoperfusion by SPECT.

rs63751032
Coding
Exon 12
Point, Missense
CTC to CAC
0 Raux 2005;
Zekanowski 2006
L424R
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; MRI showed cortical and subcortical atrophy with a thin corpus callosum.

Unknown.

rs63751032
Coding
Exon 12
Point, Missense
CTC to CGC
0 Kowalska 1999