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

Neuropathology consistent with AD, including abundant amyloid plaques and severe neurofibrillary tangle pathology (stage VI Braak and Braak). Amyloid deposits were comprised largely of Aβ42, with little to no Aβ40. There was minimal amyloid angiopathy in vessels.

Increased Aβ42.


Coding
Exon 5
Point, Missense
ATT to GTT
0 Gallo et al., 2011
I143F
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63750322
Coding
Exon 5
Point, Missense
ATT to TTT
0 Rossor et al., 1996;
Palmer et al., 1999
I143N
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63750004
Coding
Exon 5
Point, Missense
ATT to AAT
0 Raux et al., 2005
I143T
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD.

Increased Aβ42/Aβ40 ratio; increased Aβ42; decreased Aβ40.

rs63750004
Coding
Exon 5
Point, Missense
ATT to ACT
0 Cruts et al., 1995;
Rogaeva et al., 2001
I143M
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63751071
Coding
Exon 5
Point, Missense
ATT to ATG
0 Heckmann et al., 2002

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