Mutations Position Table

PSEN1 S170 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
S170F
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Variable: Some cases with typical AD pathology; Extensive Lewy bodies in the substantia nigra and throughout the brain have also been reported. One case had severe cerebellar pathology, including abundant amyloid deposition and loss of Purkinje cells.

Increased Aβ42/Aβ40 ratio in cells and in vitro, but effects on Aβ42 and Aβ40 levels varied between studies. Effects on calcium homeostasis, phospho-tau expression, autophagy, expression of mitochondrial fission and fusion proteins, cell viability, and trophic factor function have also been reported. 

 

 

 

rs63750577
Coding
Exon 6
Point, Missense
TCT to TTT
0 Snider et al., 2005
S170P
Alzheimer's Disease Alzheimer's Disease : Pathogenic, Parkinsonism : Pathogenic

In AD case, typical AD tau pathology was reported. In parkinsonism case, MRI revealed hypointensity in the putamen, globus pallidus, and substantia nigra, as well as frontotemporal cortical atrophy. SPECT showed severe nigrostriatal dopaminergic deficit bilaterally, and 18F-FDG PET hypometabolism in striatal and posterior cingulate.

Predicted damaging by Poly-Phen-2 and Mutation Taster

rs63750577
Coding
Exon 6
Point, Missense
TCT to CCT
0 Irwin et al., 2013;
Carecchio et al., 2017

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