TTRMDb
An amyloid disease database for transthyretin mutants
Sequence
| Analysis Tool |
Result |
| iMutant 3.0 | Destabilizing |
| STRUM | Destabilizing |
| iStable | Stabilizing |
| Provean | Neutral |
| PredictSNP | Neutral |
| PhD-SNP | Neutral |
| PolyPhen-2 | Neutral |
| SIFT | Neutral |
| FATHMM | Damaging |
Structure
| Analysis Tool |
Result |
| mCSM | Destabilizing |
| SDM | Destabilizing |
| DUET | Stabilizing |
| DynaMut | Stabilizing |
| CUPSAT | Stabilizing |
| ENCoM | Destabilizing |
| FoldX (Protein Stability) | No effect |
Aggregation
| Analysis Tool |
Result |
| TANGO (Aggregation Tendency) | No effect |
| WALTZ (Amyloid Propensity) | No effect |
| LIMBO (Chaperone Binding Tendency) | No effect |
Reported Articles
- Shiomi K, Nakazato M, Matsukura S, Ohnishi A, Hatanaka H, Tsuji S, Murai Y, Kojima M, Kangawa K and
Matsuo H. (1993). A basic transthyretin variant (GLU61 to LYS) causes familial amyloidotic polyneuropathy:
protein and DNA sequencing and PCR-induced mutation restriction analysis. Biochem Biophys Res
Commun. 194:1090-1096.
- Yamamoto T, Matsunaga K, Ohnishi A, Nakazato M, and Murai Y. (1996). [A late onset familial amyloidotic
polyneuropathy (FAP) with a novel variant transthyretin characterized by a basic-for-acidic amino acid
substitution (Glu61–>Lys)]. Rinsho Shinkeigaku.36:1065-1068.
Studies on Therapeutic Strategy*
- Tanaka K, Yamada T, Ohyagi Y, Asahara H, Horiuchi I, Kira J. Suppression
of transthyretin expression by ribozymes: a possible therapy for familial
amyloidotic polyneuropathy. J Neurol Sci. 2001;183: 79–84.
doi:10.1016/s0022-510x(00)00481-0
*includes studies on model organisms and commercially unavailable drugs