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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

Mutation Search

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Code:

Unique mutation code number. Activating mutation number preceded by A. Inactivating mutation number preceded by I.

Nucleotide change:

"c." designates the nucleotide relative to c.1 that is the A in the ATG of the initiation codon. Note c. number preceded by a minus sign, e.g., c.-10 designates the nucleotide 10 -bp upstream in the part of the gene encoding the 5' untranslated region of the mRNA.

Mutation trivial name:

Amino acid change, e.g., G269S, the notation consists of the normal amino acid (one-letter code) followed by the codon number and the mutant amino acid. Intronic mutation, e.g., IVS2+1g>a, the notation consists of IVS followed by intron number, then position in the intron (can be + or -), then the original nucleotide and the mutant nucleotide. Deletion or insertion, e.g., c. 547.insA, the notation consists of "c" preceded and followed by a period), then ins or del and finally the nucleotide(s) that are inserted or deleted.

Region affected:

E1-E7, exons 1-7; IVS, intervening sequence; 5'UTR, 5' untranslated region; SP, signal peptide; ECD, extracellular domain; TM1-7, transmembrane helices 1-7; ICL1-3, intracellular loops 1-3; ECL1-3, extracellular loops 1-3, ICD, intracellular domain.

Nucleotide start:
Nucleotide stop:

Precise placement of the mutation.

Type of mutation:

Missense, nonsense (protein coding), nucleotide change(s) if in an untranslated region (mRNA) or intervening sequence (gene).

Disease: Activating

ADH, autosomal dominant hypocalcemia; IE, idiopathic epilepsy; IH, idiopathic hypercalciuria; Poly, polymorphism.

Disease: Inactivating

FHH, familial hypocalciuric hypercalcemia; NSHPT, neonatal severe hyperparathyroidism; FHH/NSHPT, expression in a kindred of FHH or NSHPT affected members; FIHP, familial isolated hyperparathyroidism; TCP, tropical chronic pancreatitis; Poly, polymorphism.

Reference:

Full citation for the report of the mutation.

PMID:

PubMed ID number.

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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