Mutations Position Table
PSEN1 L226 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L226R |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Neuropathology consistent with AD in one individual, including numerous neuritic plaques and neurofibrillary tangles in the hippocampus and neocortex. |
Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. |
Coleman et al., 2004 |
| L226F |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Neuropathology consistent with AD. |
Increased Aβ42/Aβ40 ratio; increased Aβ42; increased Aβ40. |
Zekanowski et al., 2006 |
| L226V |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown, but imaging in one case showed a posterior gradient of atrophy including the hippocampus; white matter alterations in cortical and subcortical regions, and hypoperfusion in the right temporal, parietal, and occipital lobes. Also, decreased Aβ42 and Aβ42/Aβ40 ratio in CSF, with normal tau and p-tau levels. |
Unknown, but in silico algorithm predicted a damaging effect (PHRED-scaled CADD = 28). |
Zilioli et al., 2023 |
For a comparison of individuals carrying different L226 variants, see Zilioli et al., 2023.
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.