Mutations Position Table

PSEN1 L113 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L113Q
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuritic plaques (Braak stage C), neurofibrillary tangles (stage VI), and severe amyloid angiopathy.

Unknown.

rs63751399
Coding
Exon 4
Point, Missense
CTA to CAA
0 Finckh 2005
L113P
Frontotemporal Dementia Frontotemporal Dementia : Pathogenic

Unknown; CT scans showed predominant frontotemporal atrophy and SPECT showed hypoperfusion including the frontal lobes.

Unknown.

rs63751399
Coding
Exon 4
Point, Missense
CTA to CCA
0 Raux 2000