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Dr. G.N.Hendy

Jacques Mao

We thank Drs. Lilia D'Souza-Li and Svetlana 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.

Calcium Sensing Receptor Database

Mutations and Polymorphisms in the CASR

Schema of the CASR (which has 1078 amino acids) showing the relationship between gene exons (II to VII) and the portions of the protein they encode.

Exons II to VI and the beginning of exon VII encodes the ECD of ~610 amino acids, exon VII encodes the TMD of ~250 amino acids including membrane-spanning helices TM1-TM7 (indicated by the hatched boxes), ECL1 to ECL3, ICL1 to ICL3, and the ICD of ~200 amino acids. (Abbreviations: ECD, extracellular domain; TMD, transmembrane domain; TM, membrane-spanning helix; ECL, extracellular loop; ICL, intracellular loop; ICD, intracellular domain).

The locations of the inactivating mutations found in patients with FHH and/or NSHPT (as well as polymorphisms A/T826, C/S851, A/S986, R/G990, and Q/E1011) are shown above and of activating mutations found in patients with ADH below the bars representing the protein-coding exons.

Important Support
CIHR - Canadian Institutes of Health Research
The Canadian Genetic Diseases Network (CGDN-Network of Centers of Excellence)
Réseau de Médecine Génétique Appliquée (RMGA-FRSQ)
Robert McDonald Gift and Fund
Kidney Foundation of Canada
MRC of Canada (Group in Medical Genetics) (Historical)

43548 Hit(s)
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