Mutations Position Table

PSEN1 V391 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
V391F
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown

Increased Aβ42/Aβ40 ratio; reduced Aβ40 production in vitro.

rs63751066
Coding
Exon 11
Point, Missense
GTT to TTT
0 Raux et al., 2005
V391G
Alzheimer's Disease Alzheimer's Disease : Pathogenic, Parkinsonism :

Unknown; in single case MRI showed generalized mild cortical and subcortical atrophy, thinner hippocampus, and enlarged ventricles.

Unknown, probable damaging as predicted by SIFT, Poly-Phen-2, and Mutation Taster. Phenotype complicated by family history of extrapyramidal disease with several associated recessive mutations (PANK2, SYNE1, ZNF592)


Coding
Exon 11
Point, Missense
GTT to GGT
0 Lou et al., 2017

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