TTRMDb
An amyloid disease database for transthyretin mutants
Sequence
| Analysis Tool |
Result |
| iMutant 3.0 | Stabilizing |
| STRUM | Destabilizing |
| iStable | Stabilizing |
| Provean | Deleterious |
| PredictSNP | Deleterious |
| PhD-SNP | Neutral |
| PolyPhen-2 | Deleterious |
| SIFT | Deleterious |
| FATHMM | Damaging |
Structure
| Analysis Tool |
Result |
| mCSM | Destabilizing |
| SDM | Stabilizing |
| DUET | Destabilizing |
| DynaMut | Stabilizing |
| CUPSAT | Destabilizing |
| ENCoM | Destabilizing |
| FoldX (Protein Stability) | Severely 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
- Nakamura M, Yamashita T, Ando Y, Hamidi Asi K, Tashima K, Ohlsson P, Kususe Y and Benson MD. (1999). Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay. Hum Hered. 49:186-189.
- Mambule C, Ando Y, Nakamura M, Kusunose Y, Obayashi K, Tashima K, Ando E, Yamashita T, Terazaki H,
Uchino M, and Ando M. (1999). Clinical Manifestations of Familial Amyloidotic Polyneuropathy (FAP)
(ATTR Thr49Ile). The 4th International Symposium on FAP and Other TTR Related Disorders.
Umeå Sweden, June 1999.
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