Sequence information
Variant position: 118 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:
FDTCNTVSKALEATLSFVAQ
N KIDSLNLDEFCNCSEHIPST
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 FDTCNTVSKALEATLSFVAQN KIDSLNLDEFCNCSEHIPST
Mouse FDTCNTVSKALEATLSFVAQN KIDSLNLDEFCNCSEHIPST
Rat FDTCNTVSKALEATLSFVAQN KIDSLNLDEFCNCSEHIPST
Pig FDTCNTVSKALEATLSFVAQN KIDSLNLDEFCNCSEHIPST
Bovine FDTCNTVSKALEATLSFVAQN KIDSLNLDEFCNCSEHIPST
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
Chain
20 – 1078
Extracellular calcium-sensing receptor
Topological domain
20 – 612
Extracellular
Region
22 – 188
Ligand-binding 1 (LB1)
Binding site
100 – 100
Glycosylation
130 – 130
N-linked (GlcNAc...) asparagine
Disulfide bond
129 – 129
Interchain
Disulfide bond
131 – 131
Interchain
Mutagenesis
102 – 102
N -> I. Abolishes G-protein coupled receptor activity.
Helix
116 – 123
Literature citations
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.
Pearce S.H.S.; Williamson C.; Kifor O.; Bai M.; Coulthard M.G.; Davies M.; Lewis-Barned N.; McCredie D.; Powell H.; Kendall-Taylor P.; Brown E.M.; Thakker R.V.;
N. Engl. J. Med. 335:1115-1122(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HYPOC1 LYS-118; LEU-128; MET-151; LYS-191 AND SER-612; CHARACTERIZATION OF VARIANTS HYPOC1 LEU-128; MET-151 AND LYS-191;
Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.
De Luca F.; Ray K.; Mancilla E.E.; Fan G.-F.; Winer K.K.; Gore P.; Spiegel A.M.; Baron J.;
J. Clin. Endocrinol. Metab. 82:2710-2715(1997)
Cited for: VARIANTS HYPOC1 LYS-118; ARG-773 AND SER-806; CHARACTERIZATION OF VARIANTS HYPOC1 LYS-118; ARG-773 AND SER-806;
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.
Cole D.E.; Yun F.H.; Wong B.Y.; Shuen A.Y.; Booth R.A.; Scillitani A.; Pidasheva S.; Zhou X.; Canaff L.; Hendy G.N.;
J. Mol. Endocrinol. 42:331-339(2009)
Cited for: VARIANTS HHC1 SER-42; LEU-55; HIS-66; MET-81; MET-138; ARG-143; ARG-158; GLY-166; TRP-220; ARG-549; TYR-562; GLY-565; TYR-582; 583-ASN--SER-1078 DEL; TYR-661; HIS-680; ILE-761 DEL AND TRP-795; VARIANTS HYPOC1 LYS-118; PHE-125; ARG-129; LYS-228; LYS-604; ILE-802; SER-830; LEU-832 AND SER-832;
Disclaimer:
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.