TTRMDb
An amyloid disease database for transthyretin mutants
Sequence
| Analysis Tool |
Result |
| iMutant 3.0 | Stabilizing |
| STRUM | Stabilizing |
| iStable | Stabilizing |
| Provean | Neutral |
| PredictSNP | Neutral |
| PhD-SNP | Deleterious |
| PolyPhen-2 | Neutral |
| SIFT | Neutral |
| FATHMM | Damaging |
Structure
| Analysis Tool |
Result |
| mCSM | Destabilizing |
| SDM | Destabilizing |
| DUET | Destabilizing |
| DynaMut | Destabilizing |
| CUPSAT | Stabilizing |
| ENCoM | Destabilizing |
| FoldX (Protein Stability) | Reduces |
Aggregation
| Analysis Tool |
Result |
| TANGO (Aggregation Tendency) | No effect |
| WALTZ (Amyloid Propensity) | No effect |
| LIMBO (Chaperone Binding Tendency) | Increases |
Reported Articles
- Reilly MM, Adams D, Booth DR, Davis MB, Said G, Laubriat-Bianchin M, Pepys MB, Thomas PK, and
Harding AE. (1995). Transthyretin gene analysis in European patients with suspected familial amyloid
polyneuropathy. Brain. 118:849-856.
- Plante-Bordeneuve V, Lalu T, Misrahi M, Reilly MM, Adams D, Lacroix C, and Said G. (1998).
Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy.
Neurology. 51:708-714.
Studies on Therapeutic Strategy*
- Tojo K, Sekijima Y, Kelly JW, Ikeda S. Diflunisal stabilizes familial amyloid
polyneuropathy-associated transthyretin variant tetramers in serum against
dissociation required for amyloidogenesis. Neuroscience Research.
2006;56: 441–449. doi:10.1016/j.neures.2006.08.014
- Adams D, Gonzalez-Duarte A, O’Riordan WD, Yang C-C, Ueda M, Kristen AV, et
al. Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis.
N Engl J Med. 2018;379: 11–21. doi:10.1056/NEJMoa1716153
*includes studies on model organisms and commercially unavailable drugs