Mutations Position Table

PSEN1 F105 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
F105C
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; neuroimaging showed enlarged ventricles and atrophy in the hippocampus and frontotemporal regions.

Unknown; predicted damaging by in silico analysis.


Coding
Exon 4
Point, Missense
TTT to TGT
0 Jiao 2014;
Deng 2014
F105I
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.

[MET1] g.22998T>A
[NT1] g.39552T>A
rs63750325
Coding
Exon 4
Point, Missense
TTT to ATT
0 Raux 2005
F105L
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD, including numerous neurofibrillary tangles and senile plaques in the hippocampus with scattered plaques in the cortex.

Unknown.

[MET1] g.23000T>G
[NT1] g.39554T>G
rs63750321
Coding
Exon 4
Point, Missense
TTT to TTG
0 Finckh 2000
F105V
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown; predicted probably damaging by in silico analysis.

[MET1] g.22998T>G
[NT1] g.39552T>G

Coding
Exon 4
Point, Missense
TTT to GTT
0 Gómez-Tortosa 2010