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 | Deleterious |
| SIFT | Neutral |
| 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
- Dwulet FE, Benson MD. Characterization of a transthyretin (prealbumin) variant associated with familial
amyloidotic polyneuropathy type II (Indiana/Swiss). J Clin Invest. 1986;78: 880–886. doi:10.1172/JCI112675
- Pasquato N, Berni R, Folli C, Alfieri B, Cendron L, Zanotti G. Acidic pH-induced conformational changes in
amyloidogenic mutant transthyretin. J Mol Biol. 2007;366: 711–719. doi:10.1016/j.jmb.2006.11.076
- Benson MD, Wallace MR, Tejada E, Beumann H, and Page B. (1987). Description of a new American
kindred with late onset cardiomyopathy. Arthritis Rheum. 30:195-200.
Studies on Therapeutic Strategy*
- Benson MD, Kluve-Beckerman B, Zeldenrust SR, Siesky AM, Bodenmiller DM,
Showalter AD, et al. Targeted suppression of an amyloidogenic transthyretin with
antisense oligonucleotides. Muscle Nerve. 2006;33: 609–618.
doi:10.1002/mus.20503
*includes studies on model organisms and commercially unavailable drugs
Available PDB Structures