Dr. G.N.Hendy

Jacques Mao
Webmaster

We thank Drs. Lilia D'Souza-Li and Svetalana Pidasheva, and Ruth Milkereit and Yaroslava Chtompei for their previous help with the database. We thank Drs. Lucie Canaff, Vito Guarnieri and Yves Sabbagh for revising and maintaining the present database.

This part of the site allows the user to retrieve specific sets of data.
Currently the following search types are available:

• Genotype/Phenotype Search:
  Descriptions of published activating mutations and inactivating mutations and the diseases they cause
• In Vitro Search:
  Functional analysis of CASR mutations: In vitro and in silico
• Author Search
  References for all mutations

Information Pages:

Mutations and polymorphisms in the CASR
• Disease Clinical Pages (Royal Victoria Hospital)
• Sequence of the CASR gene exons
• GPCR Topology of the CASR
• Position of Mutations in the CASR
• Sequence and Features of the CASR

• Calcium-Sensing Receptor; CASR (OMIM entry 601199)
• Hypocalciuric Hypercalcemia, Familial; HHC1 (OMIM entry 145980)
• Hyperparathyroidism,Neonatal Severe Primary; NSHPT (OMIM entry 239200)
• Hypoparathyroidism,Familial Isolated; FIH (OMIM entry 146200)
• The Centre for Bone and Periodontal Research