Mutations Position Table
PSEN1 I168 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|
| I168del (TATdel) |
Alzheimer's Disease | Alzheimer's Disease : Not Classified | Unknown |
Decreased Aβ42 production and undetectable production of Aβ40 in vitro. Predicted pathogenic in silico. |
rs63750879 |
Coding Exon 6 |
Deletion ATT.ATA to ATA |
0 | Janssen et al., 2003 |
| I168del (TTAdel) |
Alzheimer's Disease | Alzheimer's Disease : Likely Pathogenic | Unknown. |
Decreased Aβ42 production and undetectable production of Aβ40 in vitro. Predicted pathogenic in silico. |
Coding Exon 6 |
Deletion TTA to --- |
0 | Jiao et al., 2014 | |
| I168dup |
Alzheimer's Disease, Myoclonus | Alzheimer's Disease : Not Classified | Neuropatholgoy consistent with AD in one case. |
Unknown, but in silico algorithms (PROVEAN and SIFT) predicted pathogenicity and CADD score was 20.2. |
Coding Exon 6 |
Duplicaton ATA to ATA.ATA |
0 | O'Connor et al., 2021 | |
| I168T |
Alzheimer's Disease | Alzheimer's Disease : Not Classified | Neuropathology consistent with AD. |
No significant effect on Aβ40 or Aβ42 secretion in cells; decreased Aβ42 and abrogated Aβ40 production in vitro. |
Coding Exon 6 |
Point, Missense ATA to ACA |
0 | Sassi et al., 2014 |
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