Variant position: 66 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1078 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human AKDQDLKSRPESVECIRYNF RGFRWLQAMIFAIEEINSSPA
Mouse AKDQDLKSRPESVECIRYNF RGFRWLQAMIFAIEEINSSPA
Rat AKDQDLKSRPESVECIRYNF RGFRWLQAMIFAIEEINSSPS
Pig AKDQNLESRPESVECIRYNF RGFRWLQAMIFAIEEINSSPA
Bovine VKDQDLKSRPESVECIRYNF RGFRWLQAMIFAIEEINSSPA
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
20 – 1078 Extracellular calcium-sensing receptor
20 – 612 Extracellular
22 – 188 Ligand-binding 1 (LB1)
66 – 70 Anion binding
81 – 81 Calcium; via carbonyl oxygen
84 – 84 Calcium
60 – 101
69 – 69 R -> E. Abolishes G-protein coupled receptor signaling pathway.
65 – 82
Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.
Chou Y.-H.W.; Pollak M.R.; Brandi M.L.; Toss G.; Arnqvist H.; Atkinson A.B.; Papapoulos S.E.; Marx S.; Brown E.M.; Seidman J.G.; Seidman C.E.;
Am. J. Hum. Genet. 56:1075-1079(1995)
Cited for: VARIANTS HHC1 MET-62; CYS-66; MET-138; GLU-143 AND GLN-227;
Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.
Bai M.; Quinn S.; Trivedi S.; Kifor O.; Pearce S.H.S.; Pollak M.R.; Krapcho K.; Hebert S.C.; Brown E.M.;
J. Biol. Chem. 271:19537-19545(1996)
Cited for: VARIANTS HHC1 MET-62; CYS-66; MET-138; GLU-143; GLN-185; LYS-297 AND TRP-795; VARIANT HYPOC1 ALA-127; FUNCTION; SUBCELLULAR LOCATION; GLYCOSYLATION; CHARACTERIZATION OF VARIANTS HHC1 MET-62; CYS-66; MET-138; GLU-143; GLN-185; LYS-297 AND TRP-795; CHARACTERIZATION OF VARIANT HYPOC1 ALA-127;
Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.
Pidasheva S.; Grant M.; Canaff L.; Ercan O.; Kumar U.; Hendy G.N.;
Hum. Mol. Genet. 15:2200-2209(2006)
Cited for: VARIANTS HHC1 CYS-66; HIS-66 AND 583-ASN--SER-1078 DEL; SUBCELLULAR LOCATION; SUBUNIT; GLYCOSYLATION; CHARACTERIZATION OF VARIANTS CYS-66; HIS-66 AND 583-ASN--SER-1078 DEL;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.