Mutations Position Table

PSEN1 G111 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
G111V
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown, but an MRI scan of one case revealed bilateral hippocampal atrophy.

Reduced Aβ40, unchanged Aβ42, and elevated Aβ42/Aβ40 ratio in transfected cells. In silico analyses (PANTHER, Mutation Taster, and PolyPhen-2) predict probably pathogenic. 


Coding
Exon 4
Point, Missense
GGG to GTG
0 Qiu et al., 2020
G111W
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown

Unknown


Coding
Exon 4
Point, Missense
GGG to TGG
0 Lanoiselée et al., 2017

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