Mutations Position Table

PSEN1 T116 Mutations

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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.

Unknown.

[MET1] g.25550C>T
[NT1] g.42104C>T
rs63750730
Coding
Exon 5
Point, Missense
ACC to ATC
0 La Bella 2004
T116N
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD.

Unknown.

[MET1] g.25550C>A
[NT1] g.42104C>A
rs63750730
Coding
Exon 5
Point, Missense
ACC to AAC
0 Romero 1999
T116R
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.


Coding
Exon 5
Point, Missense
0 Mann 2001