Mutations Position Table

PSEN1 S365 Mutations

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

Unknown.

Unknown.

rs63750941
Coding
Exon 10
Point, Missense
TCC to TAC
0 Rogaeva 2001