Mutations Position Table

PSEN1 G206 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
G206S
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; bilateral frontotemporal and parietal hypometabolism by PET; diffuse brain atrophy with enlarged ventricles by CT.

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

rs63750569
Coding
Exon 7
Point, Missense
GGT to AGT
0 Rogaeva et al., 2001;
Raux et al., 2005
G206D
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD.

Increased Aβ42 production; reduced interaction with Pen2; disrupted ER calcium homeostasis.

rs63750082
Coding
Exon 7
Point, Missense
GGT to GAT
0 Raux et al., 2005
G206A
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Typical AD neuropathology, including extensive plaques and tangles (Braak stage VI). Cortical atrophy revealed by MRI and temporo-parietal hypometabolism revealed by FDG-PET.

In cells, increased Aβ42; unchanged Aβ40. In assays with isolated proteins, decreased Aβ42 and Aβ40; increased Aβ42/Aβ40 ratio. 

 

rs63750082
Coding
Exon 7
Point, Missense
GGT to GCT
0 Rogaeva et al., 2001;
Athan et al., 2001
G206V
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; an early MRI of the proband showed mild atrophy of the brain with normal temporal lobes.

Unknown, but in silico analyses predicted it to be deleterious.

rs63750082
Coding
Exon 7
Point, Missense
GGT to GTT
0 Goldman et al., 2002

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