Mutations Position Table
PSEN1 L418 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L418F |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 12 | Unknown |
Decreased Aβ40 and Aβ42 production, and elevated Aβ42/Aβ40 ratio, in vitro. |
Rogaeva et al., 2001 |
| L418W |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 12 | Unknown, but in 2 carriers imaging showed symmetrical hyperintensities in the posterior-dominant white matter and the splenium of corpus. SPECT imaging showed hypoperfusion in the posterior cingulate gyrus and parietal lobe. In one carrier, DAT imaging revealed decreased dopamine uptake in the putamen bilaterally. |
Unknown, but in silico analysis predicted damaging effects (PHRED-scaled CADD > 20). |
Takahashi et al., 2018 |
Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.