Mutations Position Table
PSEN1 T116 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| T116I |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 5 | Unknown, but MRI and FDG-PET showed atrophy and hypometabolism in temporal and parietal regions. |
Increased Aβ42/40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells, indicating reduced γ-processivity. It also reduced total Aβ secretion. |
La Bella et al., 2004 |
| T116N |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 5 | Neuropathology consistent with AD. |
Increased Aβ42/40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells and in vitro for Aβ42/40 ratio, indicating reduced γ-processivity. It also reduced total Aβ secretion in cells and production in vitro. |
Romero et al., 1999 |
| T116_P117delinsST |
AD : Not Classified | Deletion-Insertion | Deletion-Insertion | Deletion-Insertion | Coding | Exon 5 | Neuropathology consistent with AD in biopsies from two individuals. |
Unknown. In silico predictions mixed: deleterious (PolyPhen2, SIFT, PROVEAN); uncertain significance (Mutation Taster 2); medium effect (Mutation Assessor); T116S neutral and P117T pathogenic (PredictSNP). |
Blanco et al., 2019 |
| T116R |
AD : Not Classified | | Missense | Coding | Exon 5 | Unknown. |
Increased Aβ42/40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells, indicating reduced γ-processivity. It increased Aβ42 and 43 production at the expense of Aβ37, 38 and 40, and reduced total Aβ secretion. |
Mann et al., 2001 |
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.