Mutations Position Table
PSEN1 I168 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| I168dup |
AD : Not Classified | Duplication | Duplication | Duplication | Coding | Exon 6 | Neuropatholgoy consistent with AD in one case. |
Unknown, but in silico algorithms (PROVEAN and SIFT) predicted pathogenicity and CADD score was 20.2. |
O'Connor et al., 2021 |
| I168T |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 6 | Neuropathology consistent with AD. |
No significant effect on Aβ40 or Aβ42 secretion in cells; decreased Aβ42 and abrogated Aβ40 production in vitro. |
Sassi et al., 2014 |
| I168del (TATdel) (I167del) |
AD : Not Classified | Deletion | Deletion | Deletion | Coding | Exon 6 | Unknown |
Decreased Aβ37/Aβ42, increased Aβ42/Aβ40, and increased Aβ43 in cultured cells (variant's nucleotide change was unspecified). |
Janssen et al., 2003 |
| I168del (TTAdel) (I167del) |
AD : Pathogenic | Deletion | Deletion | Deletion | Coding | Exon 6 | Unknown. |
Decreased Aβ37/Aβ42, increased Aβ42/Aβ40, and increased Aβ43 in cultured cells (nucleotide change unspecified). |
Jiao et al., 2014 |
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