Mutations Position Table

PSEN1 L282 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L282V
Alzheimer's Disease, Cerebral Amyloid Angiopathy Alzheimer's Disease : Pathogenic [MET1] g.50029C>G
[NT1] g.66635C>G
rs63749937
Coding
Exon 8
Point, Missense
CTT to GTT
0 Dermaut 2001
L282F
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.50029C>T
[NT1] g.66635C>T

Coding
Exon 8
Point, Missense
CTT to TTT
0 Hamaguchi 2009
L282R
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.50030T>G
[NT1] g.66636T>G
rs63750050
Coding
Exon 8
Point, Missense
CTT to CGT
0 Aldudo 1998