Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada.
Department of Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.
Thyroid. 2020 Jun;30(6):931-935. doi: 10.1089/thy.2019.0807. Epub 2020 Apr 1.
The thyrotropin receptor () mutation database, consisting of all known 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 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 mutations causing hyper- or hypothyroidism or insensitivity to TSH.
促甲状腺素受体（TSHR）突变数据库于 1999 年建立，包含所有已知的突变及其临床特征。本数据库内容与之前的网站（tsh-receptor-mutation-database.org）保持同步更新。新数据库共包含 638 例 TSHR 突变：448 例功能获得性突变（7 例新突变和 41 例 2012 年以来已报道突变的新病例）和 190 例功能丧失性突变（28 例新突变和 31 例 2012 年以来已报道突变的新病例）。本数据库持续更新，可快速验证导致甲状腺功能亢进或减退或对 TSH 不敏感的患者 TSHR 突变。
