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

Gospodinova M, Sarafov S, Guergueltcheva V, Kirov A, Chamova T, Todorova A, et al. Cardiac involvement and clinical follow up of patients with hereditary transthyretin related amyloidosis associated with Glu89Gln mutation. Orphanet J Rare Dis. 2015;10: P54. doi:10.1186/1750-1172-10-S1-P54
Gospodinova M, Sarafov S, Guergueltcheva V, Kirov A, Chamova T, Todorova A, et al. Cardiomyopathy and peripheral polyneuropathy severity in patients with Glu89Gln mutation at the time of diagnosis. Orphanet J Rare Dis. 2015;10: P59. doi:10.1186/1750-1172-10-S1-P59
Minutoli F, Mazzeo A, Di Bella G, Vita G, Baldari S. Is 99mTc-diphosphonate uptake the earliest sign of cardiac amyloidosis development in asymptomatic Glu89Gln transthyretin gene mutation carriers? Orphanet J Rare Dis. 2015;10: P62. doi:10.1186/1750-1172-10-S1-P62
Almeida MR, Ferlini A, Forabosco A, Gawinowicz M, Costa PP, Salvi F, et al. Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. Hum Mutat. 1992;1: 211–215. doi:10.1002/humu.1380010306

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
Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, et al. Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis. N Engl J Med. 2018;379: 22–31. doi:10.1056/NEJMoa1716793

*includes studies on model organisms and commercially unavailable drugs