Mutations Position Table

PSEN1 L235 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
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
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
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
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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