TTRMDb
An amyloid disease database for transthyretin mutants
Sequence
| Analysis Tool |
Result |
| iMutant 3.0 | Destabilizing |
| STRUM | Destabilizing |
| iStable | Destabilizing |
| Provean | Deleterious |
| PredictSNP | Deleterious |
| PhD-SNP | Neutral |
| 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
- Altland K, Benson MD, Costello CE, Ferlini A, Hazenberg BPC, Hund E, et al. Genetic microheterogeneity
of human transthyretin detected by IEF. ELECTROPHORESIS. 2007;28: 2053–2064.
doi:10.1002/elps.200600840
- Almeida M do R, Lopez-Andreu F, Munar-Ques M, Costa PP, and Saraiva MJ. (1993). Transthyretin ALA 71:
a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy. Hum Mutat.
2:420-421.
- Haagsma EB, Scheffer H, Altland K, De Jager AE, and Hazenberg BP. (2000). Transthyretin Val71Ala
mutation in a Dutch family with familial amyloidotic polyneuropathy. Amyloid. 7(3):218-221.
- Benson MD II, Turpin JC, Lucotte G, Zeldenrust S, LeChevalier, and Benson MD. (1993). A transthyretin
variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family. J Med Genet.
30: 120-122.
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