Mutations Position Table
PSEN1 V391 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| V391G |
AD : Pathogenic, Parkinsonism : Not Classified | Substitution | Substitution | Missense | Coding | Exon 11 | Unknown; in single case MRI showed generalized mild cortical and subcortical atrophy, thinner hippocampus, and enlarged ventricles. |
Unknown, probable damaging as predicted by multiple in silico algorithms. Phenotype complicated by family history of extrapyramidal disease with several associated recessive mutations (PANK2, SYNE1, ZNF592) |
Lou et al., 2017 |
| V391F |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 11 | Unknown |
Increased Aβ42/Aβ40 ratio; reduced Aβ40 production in vitro. |
Raux et al., 2005 |
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