TTRMDb
An amyloid disease database for transthyretin mutants
Sequence
| Analysis Tool |
Result |
| iMutant 3.0 | Stabilizing |
| STRUM | Destabilizing |
| iStable | Stabilizing |
| Provean | Deleterious |
| PredictSNP | Deleterious |
| PhD-SNP | Deleterious |
| PolyPhen-2 | Deleterious |
| SIFT | Deleterious |
| FATHMM | Damaging |
Structure
| Analysis Tool |
Result |
| mCSM | Destabilizing |
| SDM | Stabilizing |
| DUET | Destabilizing |
| DynaMut | Stabilizing |
| CUPSAT | Destabilizing |
| ENCoM | Destabilizing |
| FoldX (Protein Stability) | No effect |
Aggregation
| Analysis Tool |
Result |
| TANGO (Aggregation Tendency) | No effect |
| WALTZ (Amyloid Propensity) | No effect |
| LIMBO (Chaperone Binding Tendency) | No effect |
Reported Articles
- 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*
- Merlini G, Planté-Bordeneuve V, Judge DP, Schmidt H, Obici L, Perlini S, et al.
Effects of Tafamidis on Transthyretin Stabilization and Clinical Outcomes in
Patients with Non-Val30Met Transthyretin Amyloidosis. J Cardiovasc Transl Res.
2013;6: 1011–1020. doi:10.1007/s12265-013-9512-x
- Coelho T, Adams D, Silva A, Lozeron P, Hawkins PN, Mant T, et al. Safety and
efficacy of RNAi therapy for transthyretin amyloidosis. N Engl J Med.
2013;369: 819–829. doi:10.1056/NEJMoa1208760
- 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