Mutations Position Table
PSEN1 G111 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| G111V |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but an MRI scan of one case revealed bilateral hippocampal atrophy. |
Reduced Aβ40, unchanged Aβ42, and elevated Aβ42/Aβ40 ratio in transfected cells. In silico analyses (PANTHER, Mutation Taster, and PolyPhen-2) predict probably pathogenic. |
Qiu et al., 2020 |
| G111W |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown |
Unknown, but multiple in silico algorithms predicted a damaging effect. |
Lanoiselée et al., 2017 |
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.