TTRMDb
An amyloid disease database for transthyretin mutants
Sequence
| Analysis Tool |
Result |
| iMutant 3.0 | Stabilizing |
| STRUM | Destabilizing |
| iStable | Stabilizing |
| Provean | Deleterious |
| PredictSNP | Neutral |
| PhD-SNP | Neutral |
| PolyPhen-2 | Deleterious |
| SIFT | Deleterious |
| FATHMM | Damaging |
Structure
| Analysis Tool |
Result |
| mCSM | Destabilizing |
| SDM | Destabilizing |
| DUET | Destabilizing |
| DynaMut | Destabilizing |
| CUPSAT | Stabilizing |
| 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. (1999). Common molecular characteristic of amyloidogenic TTR mutations. The 4th Int’l Symp
on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999.
- Pelo E, Da Prato L, Ciaccheri M, Castelli G, Gori F, Pizzi A, et al. Familial amyloid polyneuropathy with
genetic anticipation associated to a gly47glu transthyretin variant in an Italian kindred. Amyloid.
2002;9: 35–41.
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