TTRMDb
An amyloid disease database for transthyretin mutants
Sequence
| Analysis Tool |
Result |
| iMutant 3.0 | Stabilizing |
| STRUM | Destabilizing |
| iStable | Stabilizing |
| Provean | Neutral |
| PredictSNP | Deleterious |
| PhD-SNP | Deleterious |
| PolyPhen-2 | Deleterious |
| SIFT | Deleterious |
| FATHMM | Damaging |
Structure
| Analysis Tool |
Result |
| mCSM | Destabilizing |
| SDM | Stabilizing |
| DUET | Destabilizing |
| DynaMut | Destabilizing |
| 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
- Ueno S, Uemichi T, Takahashi N, Soga F, Yorifuji S, and Tarui S. (1990). Two novel variants of transthyretin
identified in Japanese cases with familial amyloidotic polyneuropathy: Transthyretin (Glu42 to Gly) and
transthyretin (Ser50 to Arg) Biochem Biophys Res Commun. 169:1117-1121.
- Uemichi T, Ueno S, Takahashi N, Soga F, Yorifuji S, and Tarui S. (1991) [DNA tests for mutant genes coding
for transthyretins Gly42, Arg50, and Cys114 in Japanese cases of familial amyloid polyneuropathy].
Rinsho Shinikeigaku. 31:1151-1154.
- Takahashi N, Ueno S, Uemichi T, Fujimura H, Yorifuji S, and Tarui S. (1992). Amyloid polyneuropathy with
transthyretin Arg50 in a Japanese case from Osaka. J Neurol Sci. 112:58-62.
- Tachibana N, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, Masuda Y, and Ikeda S. (1999).
Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the
diagnosis of familial amyloid polyneuropathy. Amyloid. 6:282-288.
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
- Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, et
al. Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis.
N Engl J Med. 2018;379: 22–31. doi:10.1056/NEJMoa1716793
*includes studies on model organisms and commercially unavailable drugs