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 rs63750861
Coding
Exon 7
Point, Missense
ATT to TTT
0 Zekanowski et al., 2003
I213T
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.

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