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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

Mutation Search

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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.


PolyPhen (PHEN - http://genetics.bwh.harvard.edu/pph/) (http://tux.embl-heidelberg.de/ramensky/index/html) predicts the effect of an amino acid substitution on function (classified as either probably damaging, possibly damaging or benign) based on knowledge of the protein's structure, interactions, and evolution.


PolyPhen calculates a Position-Specific Independent Counts (PSIC) score based on alignment of the sequences of known CASR orthologs in several species as well as of homologous Group 3 GPCRs. PSIC, ≥0.5 = benign; 0.5≥PSIC score ≥2.0 = possibly damaging; 2.0>PSIC score = probably damaging, NP - no prediction.


SIFT (Sorting Intolerant From Tolerant) (http://blocks.fhcrc.org/sift/SIFT.html) predicts whether a particular amino acid substitution would be tolerated (Tol) or not tolerated (affect protein function, APF) based on a homology analysis of the protein of interest (CASR) from several different species, as well as related proteins (Group 3 GPCRs).


Score interpretation: ≥0.05 = predicted to affect protein function.


Whether the mutant CASR was tested in an in vitro (cell transfection) functional assay? Yes/No.


Functional assay used and end-point examined, e.g., transfected HEK293 (human embryonic kidney cells), COS7 cells, Xenopus oocytes and cellular expression, insertion into the endoplasmic reticulum (ER) (canine pancreatic microsomes), cell signaling; Fura-2 Ca2+ transient, inositol phosphate (IP), and mitogen activated protein kinase (MAPK) ERK1/2 assay.

Relative Function:

Functionality expressed relative to wild-type CASR. Gain-of-function: slight gain-of-function, (+); moderate gain-of-function, (++); important gain-of-function, (+++); Loss-of function: slight loss-of-function, (-); moderate loss-of-function, (--); important loss-of-function, (---), total loss-of-function, (----).


Full citation for the report of the mutation.


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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