Mutations Position Table

PSEN1 I143 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
I143V
Alzheimer's Disease Alzheimer's Disease : Pathogenic
Coding
Exon 5
Point, Missense
ATT to GTT
0 Gallo 2011
I143F
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63750322
Coding
Exon 5
Point, Missense
ATT to TTT
0 Rossor 1996;
Palmer 1999
I143N
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63750004
Coding
Exon 5
Point, Missense
ATT to AAT
0 Raux 2005
I143T
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63750004
Coding
Exon 5
Point, Missense
ATT to ACT
0 Cruts 1995;
Rogaeva 2001
I143M
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63751071
Coding
Exon 5
Point, Missense
ATT to ATG
0 Heckmann 2002