Mutations Position Table

PSEN1 G206 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Coding/Non-Coding Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
G206A
Alzheimer's Disease AD : 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
G206D
Alzheimer's Disease AD : 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
G206R
Alzheimer's Disease AD : Not Classified Consistent with AD. Also, end-stage TDP-43 and severe α-synuclein pathologies. Unknown, but in silico algorithm suggests deleterious (PHRED scaled-CADD = 29.2).

Coding Exon 7
GGT to CGT
0 Libard et al., 2022
G206S
Alzheimer's Disease AD : 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
G206V
Alzheimer's Disease AD : Pathogenic Unknown; an early MRI of the proband showed mild atrophy of the brain with normal temporal lobes. Increased total Aβ and Aβ42, and decreased Aβ43, Aβ40, and Aβ38 in cells.

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

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