TTRMDb
An amyloid disease database for transthyretin mutants
Sequence
| Analysis Tool |
Result |
| iMutant 3.0 | Destabilizing |
| STRUM | Stabilizing |
| iStable | Stabilizing |
| Provean | Deleterious |
| PredictSNP | Deleterious |
| PhD-SNP | Deleterious |
| PolyPhen-2 | Deleterious |
| SIFT | Deleterious |
| FATHMM | Damaging |
Structure
| Analysis Tool |
Result |
| mCSM | Destabilizing |
| SDM | Destabilizing |
| DUET | Destabilizing |
| DynaMut | Stabilizing |
| CUPSAT | Stabilizing |
| ENCoM | Destabilizing |
| FoldX (Protein Stability) | Slightly Enhances |
Aggregation
| Analysis Tool |
Result |
| TANGO (Aggregation Tendency) | No effect |
| WALTZ (Amyloid Propensity) | No effect |
| LIMBO (Chaperone Binding Tendency) | No effect |
Reported Articles
- Holmgren G, Hellman U, Anan I, Lundgren H-E, Jonasson J, Stafberg C, et al. Cardiomyopathy in Swedish
patients with the Gly53Glu and His88Arg transthyretin variants. Amyloid. 2005;12: 184–188.
doi:10.1080/13506120500223126
- Yokoyama T, Hanawa Y, Obita T, Mizuguchi M. Stability and crystal structures of His88 mutant human
transthyretins. FEBS Lett. 2017;591: 1862–1871. doi:10.1002/1873-3468.12704
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