Mutations Position Table

PSEN1 N135 Mutations

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.

Increased Aβ42/Aβ40 ratio in cell lines; increases intracellular and secreted Aβ42 and decreases Aβ40.

rs63750353
Coding
Exon 5
Point, Missense
AAT to GAT
0 Crook et al., 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.

rs63751278
Coding
Exon 5
Point, Missense
AAT to AGT
0 Finckh et al., 2005
N135Y
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Postmortem findings consistent with AD.

Reduced levels of secreted Aβ40 and higher Aβ42/Aβ40 ratio.


Coding
Exon 5
Point, Missense
AAT to TAT
0 Natelson Love et al., 2017

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