Mutations Position Table
PSEN1 G206 Mutations
| 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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