Mutations Position Table

PSEN1 V261 Mutations

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

Cotton wool plaques.

rs63750964
Coding
Exon 8
Point, Missense
GTT to TTT
0 Rogaeva et al., 2001;
Farlow et al., 2000;
Farlow et al., 2001

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