Mutations Position Table

PSEN1 S230 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
S230I
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Drastically decreased Aβ42 production and abrogated Aβ40 production in vitro.


Coding
Exon 7
Point, Missense
AGT to ATT
0 Wallon et al., 2012
S230N
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown, but MRI showed diffuse atrophy, which was most severe in lateral temporal lobes and insulae.

Unknown, but predicted to be “not tolerated” by SIFT and “Probably Damaging” by PolyPhen-2.


Coding
Exon 7
Point, Missense
AGT to AAT
0 Ringman et al., 2017
S230R
Alzheimer's Disease Alzheimer's Disease : Pathogenic

SPECT imaging showed bilateral parietal hypoperfusion, more marked on the left side. Postmortem evaluation revealed neuropathology consistent with AD, including advanced plaque and tangle pathology (CERAD C, Braak VI).

Unknown; predicted possibly damaging in silico.


Coding
Exon 7
Point, Missense
AGT to AGG
0 Sassi et al., 2014

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