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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