Mutations Position Table

PSEN1 I213 Mutations

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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 [MET1] g.44656A>T
[NT1] g.61262A>T
rs63750861
Coding
Exon 7
Point, Missense
ATT to TTT
0 Zekanowski 2003
I213T
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.44657T>C
[NT1] g.61263T>C
rs63751039
Coding
Exon 7
Point, Missense
ATT to ACT
0 Kamino 1996