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)
(-, I167del)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

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)
(-, I167del)
Alzheimer's Disease Alzheimer's Disease : 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 : Pathogenic

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
--- to ATA
0 O'Connor et al., 2021
I168T
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD.

Decreased Aβ42 production and abrogated Aβ40 production in vitro; predicted possibly damaging in silico.


Coding
Exon 6
Point, Missense
ATA to ACA
0 Sassi et al., 2014

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