Mutations Position Table

PSEN1 L174 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L174M
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63751144
Coding
Exon 6
Point, Missense
CTG to ATG
0 Bertoli Avella et al., 2002;
Sorbi et al., 2002
L174R
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63751025
Coding
Exon 6
Point, Missense
CTG to CGG
0 Kl√ľnemann et al., 2004