Mutations Position Table

PSEN1 T116 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
T116I
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown, but MRI and FDG-PET showed atrophy and hypometabolism in temporal and parietal regions.

Unknown, but predicted to be damaging and disruptive of 3D conformation by several in silico analyses (PolyPhen2, PROVEAN, ExPASY, Raptor X).

rs63750730
Coding
Exon 5
Point, Missense
ACC to ATC
0 La Bella et al., 2004
T116N
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD.

Decreased Aβ40 and Aβ42 production; increased Aβ42/Aβ40 ratio in vitro.

rs63750730
Coding
Exon 5
Point, Missense
ACC to AAC
0 Romero et al., 1999
T116R
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.


Coding
Exon 5
Point, Missense
0 Mann et al., 2001
T116S; P117T
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD in biopsies from two individuals. 

Unknown. In silico predictions mixed: deleterious (PolyPhen2, SIFT, PROVEAN); uncertain significance (Mutation Taster 2); medium effect (Mutation Assessor); T116S neutral and P117T pathogenic (PredictSNP).


Coding
Exon 5
Insertion/Deletion
ACC CCA to TCT ACA
0 Blanco et al., 2019

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