Mutations Position Table
PSEN1 I213 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|
| I213F |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Unknown |
Increased Aβ40 and Aβ42 secretion, and increased Aβ42/Aβ40 ratio in transfected cells. |
rs63750861 |
Coding Exon 7 |
Point, Missense ATT to TTT |
0 | Zekanowski et al., 2003 |
| I213L |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Unknown |
Increased Aβ40 and Aβ42 production, and an increase in the Aβ42:Aβ40 ratio as assessed in vitro. |
rs63750861 |
Coding Exon 7 |
Point, Missense ATT to CTT |
0 | Rogaeva et al., 2001 |
| I213T |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Unknown. |
Decreased short (Aβ38, Aβ40, and Aβ42), and increased long (Aβ43, Aβ45, Aβ46+) Aβ peptides in cell lysates and knockin mouse brains. Increased Aβ42/Aβ40 ratio, and decreased Aβ38/Aβ42 and Aβ40/Aβ43 ratios. Also inhibits neuroprotection by trophic factors and impairs angiogenesis in KI mice.
|
rs63751039 |
Coding Exon 7 |
Point, Missense ATT to ACT |
0 | Kamino et al., 1996 |
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