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 : Not Classified | 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 : Likely Pathogenic | Unknown, but MRI showed diffuse atrophy, which was most severe in lateral temporal lobes and insulae. |
Unknown, but multiple in silico algorithms predicted a damaging effect. |
Coding Exon 7 |
Point, Missense AGT to AAT |
0 | Ringman et al., 2017 | |
| S230R |
Alzheimer's Disease | Alzheimer's Disease : Not Classified | 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, but multiple in silico algorithms predicted a damaging effect. |
Coding Exon 7 |
Point, Missense AGT to AGG |
0 | Sassi et al., 2014 |
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