Mutations Position Table

PSEN1 I168 Mutations

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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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