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. 

 

rs63751039
Coding
Exon 7
Point, Missense
ATT to ACT
0 Kamino et al., 1996

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