The Thyrotropin Receptor Mutation Database Update.

The thyrotropin receptor (TSHR) mutation database, consisting of all known TSHR mutations and their clinical characterizations, was established in 1999. The database contents are updated here with the same website (tsh-receptor-mutation-database.org). The new database contains 638 cases of TSHR mutations: 448 cases of gain of function mutations (7 novel mutations and 41 new cases for previously described mutations since its last update in 2012) and 190 cases of loss of function mutations (28 novel mutations and 31 new cases for previously described mutations since its last update in 2012). This database is continuously updated and allows for rapid validation of patient TSHR mutations causing hyper- or hypothyroidism or insensitivity to TSH.

Citation

Alexandra Stephenson, Lorraine Lau, Markus Eszlinger, Ralf Paschke. The Thyrotropin Receptor Mutation Database Update. Thyroid : official journal of the American Thyroid Association. 2020 Jun;30(6):931-935

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PMID: 32111150

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