Mutations Position Table
PSEN1 I168 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Coding/Non-Coding | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|---|
| I168dup |
Alzheimer's Disease, Myoclonus | AD : 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 | AD : 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 | |
| I168del (TATdel) (I167del) |
Alzheimer's Disease | AD : Not Classified | Unknown | Decreased Aβ37/Aβ42, increased Aβ42/Aβ40, and increased Aβ43 in cultured cells (variant's nucleotide change was unspecified). | rs63750879 |
Coding | Exon 6 | Deletion ATT.ATA to ATA |
0 | Janssen et al., 2003 |
| I168del (TTAdel) (I167del) |
Alzheimer's Disease | AD : Pathogenic | Unknown. | Decreased Aβ37/Aβ42, increased Aβ42/Aβ40, and increased Aβ43 in cultured cells (nucleotide change unspecified). | Coding | Exon 6 | Deletion TTA to --- |
0 | Jiao et al., 2014 |
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