TTRMDb

An amyloid disease database for transthyretin mutants

Sequence

Analysis Tool	Result
TANGO (Aggregation Tendency)	No effect
WALTZ (Amyloid Propensity)	No effect
LIMBO (Chaperone Binding Tendency)	No effect

Lachmann HJ, Booth DR, Booth SE, Bybee A, Gilbertson JA, Gillmore JD, et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med. 2002;346: 1786–1791. doi:10.1056/NEJMoa013354
Augustin S, Llige D, Andreu A, González A, Genescà J. Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene. Eur J Clin Invest. 2007;37: 673–678. doi:10.1111/j.1365-2362.2007.01836.x
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.
Lipowska M, Rowczenio D, Gilbertson J, Hawkins PN, Ptasinska-Perkowska A, Drac H. Transthyretin-related Familial Amyloid Polyneuropathy (TTR-FAP) caused by a very rare, de novo mutation in a Polish patient. Orphanet J Rare Dis. 2015;10: P25. doi:10.1186/1750-1172-10-S1-P25

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