TTRMDb
An amyloid disease database for transthyretin mutants
Sequence
| Analysis Tool |
Result |
| iMutant 3.0 | Stabilizing |
| STRUM | Destabilizing |
| iStable | Destabilizing |
| Provean | Deleterious |
| PredictSNP | Neutral |
| PhD-SNP | Neutral |
| PolyPhen-2 | Deleterious |
| SIFT | Neutral |
| FATHMM | Damaging |
Structure
| Analysis Tool |
Result |
| mCSM | Destabilizing |
| SDM | Destabilizing |
| DUET | Destabilizing |
| DynaMut | Stabilizing |
| CUPSAT | Destabilizing |
| ENCoM | Destabilizing |
| FoldX (Protein Stability) | Reduces |
Aggregation
| Analysis Tool |
Result |
| TANGO (Aggregation Tendency) | No effect |
| WALTZ (Amyloid Propensity) | No effect |
| LIMBO (Chaperone Binding Tendency) | No effect |
Reported Articles
- Altland K, Benson MD, Costello CE, Ferlini A, Hazenberg BPC, Hund E, et al. Genetic microheterogeneity
of human transthyretin detected by IEF. ELECTROPHORESIS. 2007;28: 2053–2064.
doi:10.1002/elps.200600840
- Magy N, Liepnieks JJ, Gil H, Kantelip B, Dupond J-L, Kluve-Beckerman B, et al. A
transthyretin mutation (Tyr78Phe) associated with peripheral neuropathy, carpal tunnel
syndrome and skin amyloidosis. Amyloid. 2003;10: 29–33.
Studies on Therapeutic Strategy*
- 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