Mutations Position Table

PSEN1 V261 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
V261L
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic [MET1] g.49966G>C
[NT1] g.66572G>C

Coding
Exon 8
Point, Missense
GTT to CTT
0 Jiménez Caballero 2008
V261F
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic

Cotton wool plaques.

[MET1] g.49966G>T
[NT1] g.66572G>T
rs63750964
Coding
Exon 8
Point, Missense
GTT to TTT
0 Rogaeva 2001;
Farlow 2000;
Farlow 2001