Mutations Position Table

PSEN1 S365 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
S365A
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.63824T>G
[NT1] g.80436T>G

Coding
Exon10
Point, Missense
TCC to GCC
0 Clarimón 2008;
Guerreiro 2010
S365Y
Alzheimer's Disease Alzheimer's Disease : Unclear Pathogenicity

Unknown.

Unknown.

[MET1] g.63825C>A
[NT1] g.80437C>A
rs63750941
Coding
Exon 10
Point, Missense
TCC to TAC
0 Rogaeva 2001