TTRMDb
An amyloid disease database for transthyretin mutants
Sequence
| Analysis Tool |
Result |
| iMutant 3.0 | Destabilizing |
| STRUM | Destabilizing |
| iStable | Stabilizing |
| Provean | Deleterious |
| PredictSNP | Deleterious |
| PhD-SNP | Deleterious |
| PolyPhen-2 | Deleterious |
| SIFT | Deleterious |
| FATHMM | Damaging |
Structure
| Analysis Tool |
Result |
| mCSM | Destabilizing |
| SDM | Destabilizing |
| DUET | Destabilizing |
| DynaMut | Stabilizing |
| 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, 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
- Ferlini A, Patrosso MC, Repetto M, Frattini A, Villa A, Fini S, Salvi F, Vezzoni P and Forabosco A. (1994).
A new mutation (TTR-Ala-47) in the transthyretin gene associated with hereditary amyloidosis.
Hum Mut 4:61-64.
- Altland K, Benson MD, Kruger M, Linke RP, Manns MP, Uemichi T, and Winter P. (1996). Demon stration of
mutant TTR (Ala47) in spinal fluid and its absence in plasma after liver transplantation. Neuromuscular
Disord (Supplement). 6:S.
- Solaro C, Schenone A, Di Sapio A, Pradotto L, Mancardi GL, Primavera A, and Mauro A. (2000). An Italian
family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy.
Neuromusc Disord. 10:52-55.
- Ferlini A, Salvi F, Patrosso C, Fini S, Vezzoni P, and Forabosco A. (1993). A new tranthyretin gene mutation
in hereditary amyloidosis TTR-related. J Rheumatol. 20:187.
Studies on Therapeutic Strategy*
- Merlini G, Planté-Bordeneuve V, Judge DP, Schmidt H, Obici L, Perlini S, et al.
Effects of Tafamidis on Transthyretin Stabilization and Clinical Outcomes in
Patients with Non-Val30Met Transthyretin Amyloidosis. J Cardiovasc Transl Res.
2013;6: 1011–1020. doi:10.1007/s12265-013-9512-x
- 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