The thyrotropin receptor mutation database: update 2003.

Area of Science:

• Endocrinology
• Genetics
• Bioinformatics

Background:

• The TSHR mutation database was initially created in 1999 to compile TSHR mutations and associated clinical conditions.
• The database has since garnered over 2887 users from 36 countries, contributing valuable suggestions.

Purpose of the Study:

• To present an updated and expanded version of the TSHR mutation database.
• To introduce novel features enhancing its utility for researchers and clinicians.

Main Methods:

• Compilation of detailed functional characteristics for 65 reported TSHR mutations (43 activating, 22 inactivating).
• Inclusion of 40 pedigrees with molecular, clinical, and treatment information for germline TSHR mutations.
• First-time compilation of site-directed mutagenesis studies.
• Integration of Medline-linked references and a user-friendly search tool.
• Development of an administrator tool for novel mutation submission.

Main Results:

• The database now comprehensively details 65 TSHR mutations, categorizing them as activating or inactivating.
• Extensive pedigree data provides insights into the molecular basis, clinical progression, and therapeutic strategies for TSHR-related disorders.
• The updated database offers enhanced search capabilities and facilitates the submission of new mutation data.

Conclusions:

• The enhanced TSHR mutation database serves as a valuable, centralized resource for studying TSHR genetics and associated endocrine diseases.
• The new features improve data accessibility, research collaboration, and the ongoing curation of TSHR mutation information.