An amyloid disease database for transthyretin mutants


TTRMDb – TransThyRetin Mutant Database

The TTRM database can be used to study the effect of mutations on the protein transthyretin using various computational tools. The resource was established to better understand how sequence variation may affect structural and functional features of the protein. Click here pdf_icon for more information about the database.


Transthyretin is a prealbumin protein of 127 amino acids and is a primary transport protein for thyroxine and retinol (vitamin A). The protein is a common constituent of neuritic plaques and micro-angiopathic lesions related to amyloid deposition. The majority of mutations in TTR result in amyloid polyneuropathy, which involves small, unmyelinated fibers. Indeed, there is a much larger prevalence of TTR mutations than recognized disease due to the wide variation in phenotypes.

TransThyRetin Mutation

More than a 100 mutations have been identified that affect transthyretin. Mutations in TTR that lead to a misfolding of the transthyretin protein generally result in amyloidosis. The most common mutation associated with polyneuropathy is V30M. Other common mutations include: T60A, L58H, S77Y and V122I. V122I is a mutation that is predominantly found in patients affected with cardiomyopathy. T60A is implicated in both, cardiomyopathy and neuropathy.