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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