TTRMDb
An amyloid disease database for transthyretin mutants
Sequence
| Analysis Tool |
Result |
| iMutant 3.0 | Destabilizing |
| STRUM | Destabilizing |
| iStable | Destabilizing |
| Provean | Deleterious |
| PredictSNP | Deleterious |
| PhD-SNP | Deleterious |
| PolyPhen-2 | Neutral |
| SIFT | Deleterious |
| FATHMM | Damaging |
Structure
| Analysis Tool |
Result |
| mCSM | Stabilizing |
| SDM | Destabilizing |
| DUET | Stabilizing |
| DynaMut | Destabilizing |
| CUPSAT | Destabilizing |
| ENCoM | Destabilizing |
| FoldX (Protein Stability) | Slightly Reduces |
Aggregation
| Analysis Tool |
Result |
| TANGO (Aggregation Tendency) | No effect |
| WALTZ (Amyloid Propensity) | No effect |
| LIMBO (Chaperone Binding Tendency) | No effect |
Reported Articles
- Shimizu A, Nakanishi T, Kishikawa M, Miyazaki A, and Koyama I. (1998). [Detection and characteration of
aberrant blood proteins and quantification of glycated hemoglobin by mass spectrometry]. Rinsho Byori.
46:461-468.
- Janunger T, Tashima K, Suhr OB, Anan I, Ohlsson P-I, and Holmgren G. (1999). Clinicopathological findings
of 2 familial amyloidosis patients with a novel TTR variant (Ala 38) The 4th Int’l Symp on FAP and Other
TTR Related Disorders. Umeå Sweden, June 1999.
- Higashikata T, Yazaki M, Ikeda S, Nakamura A, and Higuchi K. (1999). Biochemical analysis of amyloid fibril
protein in the heart of patients with Ala 38 TTR variant. The 4th International Symposium on FAP and Other
TTR Related Disorders. Umeå Sweden, June 1999.
- Tachibana N, Tokuda T, Yoshida K, Taketoni T, Nakazato M, Li YF, Masuda Y, and Ikeda S. (1999).
Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the
diagnosis of familial amyloid polyneuropathy. Amyloid. 6:282-288.
- Yazaki M, Tokuda T, Nakamura A, Higashikata T, Koyama J, Higuchi K, Harihara Y, Baba S, Kametani F, and
Ikeda S. (2000). Cardiac amyloid in patiants with familial amyloid polyneuropathy consists of abundant
wild-type transthyretin. Biochem Biophys Res Commun. 274:702-706.
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
Available PDB Structures