Mutations Position Table

PSEN1 N135 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
N135D
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Brain biopsy showed mild loss of neurons and secondary gliosis with multiple neuritic plaques and abundant neurofibrillary tangles.

Increases intracellular and secreted Aβ42 and decreases Aβ40, resulting in an increased Aβ42/Aβ40 ratio in cell lines.

[MET1] g.25606A>G
[NT1] g.42160A>G
rs63750353
Coding
Exon 5
Point, Missense
AAT to GAT
0 Crook 1997
N135S
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD, including widespread neurofibrillary tangles and neuritic plaques. Some cotton-wool plaques. Mild amyloid angiopathy. Corticospinal tract pathology.

Unknown.

[MET1] g.25607A>G
[NT1] g.42161A>G
rs63751278
Coding
Exon 5
Point, Missense
AAT to AGT
0 Finckh 2005