Mutations Position Table

PSEN1 I143 Mutations

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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 [MET1] g.25630A>G
[NT1] g.42184A>G

Coding
Exon 5
Point, Missense
ATT to GTT
0 Gallo 2011
I143F
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.25630A>T
[NT1] g.42184A>T
rs63750322
Coding
Exon 5
Point, Missense
ATT to TTT
0 Rossor 1996;
Palmer 1999
I143N
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.25631T>A
[NT1] g.42185T>A
rs63750004
Coding
Exon 5
Point, Missense
ATT to AAT
0 Raux 2005
I143T
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.25631T>C
[NT1] g.42185T>C
rs63750004
Coding
Exon 5
Point, Missense
ATT to ACT
0 Cruts 1995;
Rogaeva 2001
I143M
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.25632T>G
[NT1] g.42186T>G
rs63751071
Coding
Exon 5
Point, Missense
ATT to ATG
0 Heckmann 2002