Mutations Position Table
PSEN1 L235 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L235R |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown; MRI showed bilateral atrophy, especially in the temporal and parietal lobes. |
Drastically decreased Aβ42 production and abrogated Aβ40 production in vitro. Also, caused incomplete endoproteolytic processing of PSEN1. Predicted possibly damaging in silico. |
Antonell et al., 2011 |
| L235P |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Neuropathology consistent with AD. |
In transgenic mice, increased production of Aβ, increased tau hyperphosphorylation, and loss of synaptic protein. In cells, decreased Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios. |
Campion et al., 1996 |
| L235dup |
AD : Not Classified | Coding | Exon 7 | Unknown, but MRI showed hippocampal atrophy and ventricular enlargement. PET revealed amyloid deposition throughout the cortex. |
Unknown. |
Liang et al., 2023 | ||
| L235V |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Neuropathology consistent with AD in at least one case. |
Modestly decreased Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios in cells, and increased Aβ42/Aβ40 in cells but not in vitro; deleterious effect on monoamine oxidase. |
Janssen et al., 2003 |
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