Mutations Position Table
PSEN1 L219 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L219R |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown, but brain imaging showed atrophy and reduced blood flow in temporal, parietal, and frontal lobes. Also, widespread microbleeds were found in brain, brainstem, and cerebellum. Levels of phospho-tau in CSF were elevated, while those of Aβ42 were reduced. |
Unknown, but multiple in silico algorithms predicted a damaging effect. |
Ikeda et al., 2013 |
| L219P |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Neuropathology consistent with AD in one case; meningeal CAA in cortex and cerebellum. PET and SPECT show hypoperfusion and hypometabolism in temporal lobes and right parietal lobe. |
Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. |
Smith et al., 1999 |
| L219F |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown |
Decreased Aβ40; increased Aβ42 and the Aβ42/Aβ40 ratio in vitro. |
Terreni et al., 2016 |
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