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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