Mutations Position Table

PSEN1 L166 Mutations

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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 prominant in the medial temporal lobes.

Unknown.

[MET1] g.38793_38795delCTT
[NT1] g.55398_55400delCCT
rs63751458
Coding
Exon 6
Deletion
CTT to ---
0 Knight 2007
L166H
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; MRI showed marked hippocampal atrophy and cortical atrophy, especially in the insula and the periinsular temporal lobe. SPECT imaging showed bilateral hypometabolism in the parietal and frontal lobes.

Unknown.

[MET1] g.38794T>A
[NT1] g.55399T>A
rs63750265
Coding
Exon 6
Point, Missense
CTT to CAT
0 Pantieri 2005
L166P
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic

Numerous Aβ-positive neuritic and cotton wool plaques throughout the cerebral cortex. Abundant Aβ-positive amyloid cores in the cerebellar cortex.

Increased Aβ42 generation and a 5- to 6-fold increase of the Aβ42/Aβtotal ratio. Total levels of Aβ were similar to cells expressing wild-type PSEN1. Reduced generation of the APP intracellular domain (AICD) and the Notch intracellular domain (NICD) and impaired Notch signaling.

[MET1] g.38794T>C
[NT1] g.55399T>C
rs63750265
Coding
Exon 6
Point, Missense
CTT to CCT
1 Moehlmann 2002
L166R
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; MRI in the proband showed cortical atrophy; PET showed parietal hypoperfusion.

Unknown.

[MET1] g.38794T>G
[NT1] g.55399T>G
rs63750265
Coding
Exon 6
Point, Missense
CTT to CGT
0 Ezquerra 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 to be "possibly damaging" in silico.


Coding
Exon 6
Point, Missense
CTT to GTT
0 Sassi 2014