TTRMDb
An amyloid disease database for transthyretin mutants
Sequence
| Analysis Tool |
Result |
| iMutant 3.0 | Destabilizing |
| STRUM | Destabilizing |
| iStable | Destabilizing |
| Provean | Neutral |
| PredictSNP | Neutral |
| PhD-SNP | Deleterious |
| PolyPhen-2 | Neutral |
| SIFT | Neutral |
| FATHMM | Damaging |
Structure
| Analysis Tool |
Result |
| mCSM | Destabilizing |
| SDM | Destabilizing |
| DUET | Destabilizing |
| DynaMut | Stabilizing |
| CUPSAT | Stabilizing |
| ENCoM | Stabilizing |
| FoldX (Protein Stability) | Reduces |
Aggregation
| Analysis Tool |
Result |
| TANGO (Aggregation Tendency) | No effect |
| WALTZ (Amyloid Propensity) | No effect |
| LIMBO (Chaperone Binding Tendency) | Decreases |
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
- Jones LA, Skare JC, Harding JA, Cohen AS, Milunsky A, and Skinner M. (1991). Proline at position 36: A
new transthyretin mutation associated with familial amyloidotic polyneuropathy.
Am J Hum Genet. 48:979-982.
- Jacobson DR, Rosenthal CJ, and Buxbaum JN. (1992). Transthyretin mutation associated with familial
amyloidotic polyneuropathy in an Ashkenazic Jewish kindred. Hum Genet. 90:158-160.
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