Mutations Position Table
PSEN1 L166 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|
| L166del |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Unknown; MRI showed generalized, symmetrical cerebral atrophy, which was most prominent in the medial temporal lobes. |
Unknown. |
rs63751458 |
Coding Exon 6 |
Deletion CTT to --- |
0 | Knight et al., 2007 |
| L166H |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Unknown; MRI showed marked hippocampal atrophy and cortical atrophy, especially in the insula and the peri-insular temporal lobe. SPECT imaging showed bilateral hypometabolism in the parietal and frontal lobes. |
Unknown. |
rs63750265 |
Coding Exon 6 |
Point, Missense CTT to CAT |
0 | Pantieri et al., 2005 |
| L166P |
Alzheimer's Disease, Spastic Paraparesis | Alzheimer's Disease : Pathogenic | In one individual, numerous Aβ-positive neuritic and cotton-wool plaques throughout the cerebral cortex; abundant Aβ-positive amyloid cores in the cerebellar cortex. In another, robust amyloid pathology in the striatum and cerebellum, and asymmetric tau pathology in the primary sensorimotor cortex contralateral to the side most affected by spasticity. |
Increased Aβ42 and Aβ43, decreased total Aβ production. Normal endoproteolysis. Reduced Notch and N-cadherin cleavage. Disrupts endosomes via accumulation of APP β-CTF. Also, dominant-negative effect on wild-type PSEN1, and inhibition of calcium leak in the ER. |
rs63750265 |
Coding Exon 6 |
Point, Missense CTT to CCT |
4 | Moehlmann et al., 2002 |
| L166R |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Unknown; MRI in the proband showed cortical atrophy; PET showed parietal hypoperfusion. |
Unknown. |
rs63750265 |
Coding Exon 6 |
Point, Missense CTT to CGT |
0 | Ezquerra et al., 2000 |
| L166V |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic | SPECT imaging performed four years after symptom onset showed temporoparietal hypoperfusion. Postmortem evaluation revealed neuropathology consistent with AD, including advanced plaques and tangles (CERAD C, Braak stage VI). |
Unknown; predicted possibly damaging in silico. |
Coding Exon 6 |
Point, Missense CTT to GTT |
0 | Sassi et al., 2014 |
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