Mutations Position Table

PSEN1 L235 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L235P
Myoclonus, Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD, including a high density of senile plaques and neurofibrillary tangles in the cerebral cortex and hippocampus. Tangles in the basal nucleus of Meynert, septal and raphe nuclei, and the locus coeruleus.

Drastically decreased Aβ42 production and abrogated Aβ40 production in vitro. Expression in transgenic mice was associated with increased production of Aβ, increased tau hyperphosphorylation, and loss of synaptic protein.

rs63749835
Coding
Exon 7
Point, Missense
CTG to CCG
1 Campion et al., 1996
L235R
Alzheimer's Disease Alzheimer's Disease : Pathogenic

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.


Coding
Exon 7
Point, Missense
CTG to CGG
0 Antonell et al., 2011
L235V
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD in at least one case.

Decreased Aβ40 and Aβ42 production in vitro, without changing the Aβ42/Aβ40 ratio. Elevated monoamine-oxidase-A activity.

rs63751130
Coding
Exon 7
Point, Missense
CTG to GTG
0 Janssen et al., 2003

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