Mutations Position Table

PSEN1 L392 Mutations

Tools

Back to the Top
Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L392V
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.69088C>G
[NT1] g.85700C>G
rs63751416
Coding
Exon 11
Point, Missense
CTG to GTG
0 Campion 1995;
Campion 1995;
Rogaev 1995;
Campion 1999
L392P
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.69089T>C
[NT1] g.85701T>C
rs63750218
Coding
Exon 11
Point, Missense
CTG to CCG
0 Tedde 2000;
Sorbi 2002