TTRMDb
An amyloid disease database for transthyretin mutants
Sequence
| Analysis Tool |
Result |
| iMutant 3.0 | Destabilizing |
| 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 | Destabilizing |
| DUET | Destabilizing |
| DynaMut | Destabilizing |
| 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
- Tachibana N, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, et al. Usefulness of MALDI/TOF mass
spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid
polyneuropathy. Amyloid. 1999;6: 282–288.
- Lai H-J, Chiang Y-W, Yang C-C, Hsieh S-T, Chao C-C, Lee M-J, et al. The Temporal Profiles of Changes in
Nerve Excitability Indices in Familial Amyloid Polyneuropathy. PLoS One.
2015;10. doi:10.1371/journal.pone.0141935
- Kan H-W, Chiang H, Lin W-M, Yu I-S, Lin S-W, Hsieh S-T. Sensory nerve degeneration in a mouse model
mimicking early manifestations of familial amyloid polyneuropathy due to transthyretin Ala97Ser.
Neuropathol Appl Neurobiol. 2018;44: 673–686. doi:10.1111/nan.12477
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