Mutations Position Table

PSEN1 L286 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L286P
Alzheimer's Disease, Cerebral Amyloid Angiopathy Alzheimer's Disease : Pathogenic, Cerebral Amyloid Angiopathy : Pathogenic [MET1] g.50042T>C
[NT1] g.66648T>C

Coding
Exon 8
Point, Missense
CTC to CCC
0 Sánchez-Valle 2007
L286V
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD.

Increased Aβ42/Aβtotal ratio.

[MET1] g.50041C>G
[NT1] g.66647C>G
rs63751235
Coding
Exon 8
Point, Missense
CTC to GTC
1 Sherrington 1995