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

Ueno S, Uemichi T, Takahashi N, Soga F, Yorifuji S, and Tarui S. (1990). Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: Transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg) Biochem Biophys Res Commun. 169:1117.
Uemichi T, Ueno S, Takahashi N, Soga F, Yorifuji S, and Tarui S. (1991). [DNA tests for mutant genes coding for transthyretins Gly42, Arg50, and Cys114 in Japanese cases of familial amyloid polyneuropathy]. Rinsho Shinikeigaku. 31:1151-1154.
Uemichi T, Ueno S, Fujimura H, Umekage T, Yorifuji S, Matsuzawa Y, and Tarui S. (1992). Familial amyloid polyneuropathy related to transthyretin Gly42 in a Japanese family. Muscle Nerve. 15:1027.
Skare J, Jones LA, Myles N, Kane K, Milunsky A, Cohen A, and Skinner M. (1994). Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis. Clin Genet. 45(6):281-284.
Toyooka K, Fujimura H, Ueno S, Yoshikawa H, Kaido M, Nishimura T, Yorifuji S, and Yanagihara T. (1995). Familial amyloid polyneuropathy associated with transthyretin Gly42 mutation: a quantitative light and electron microscopic study of the peripheral nervous system. Acta Neuropathol (Berl). 90:516-525.

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