Mutations Position Table

PSEN1 L235 Mutations

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

Unknown; expresison in transgenic mice was associated with increased production of Aβ, increased tau hyperphosphorylation, and loss of synaptic protein.

[MET1] g.44723T>C
[NT1] g.61329T>C
rs63749835
Coding
Exon 7
Point, Missense
CTG to CCG
1 Campion 1996
L235V
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with a diagnosis of AD in at least one case.

Elevated monoamine-oxidase-A activity.

[MET1] g.44722C>G
[NT1] g.61328C>G
rs63751130
Coding
Exon 7
Point, Missense
CTG to GTG
0 Janssen 2003