Variant position: 128 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 LEATLSFVAQNKIDSLNLDE FCNCSEHIPSTIAVVGATGSG
Mouse LEATLSFVAQNKIDSLNLDE FCNCSEHIPSTIAVVGATGSG
Rat LEATLSFVAQNKIDSLNLDE FCNCSEHIPSTIAVVGATGSG
Pig LEATLSFVAQNKIDSLNLDE FCNCSEHIPSTIAVVGATGSG
Bovine LEATLSFVAQNKIDSLNLDE FCNCSEHIPSTIAVVGATGSG
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)
145 – 145 Calcium
147 – 147 Aromatic amino acid
130 – 130 N-linked (GlcNAc...) asparagine
129 – 129 Interchain
131 – 131 Interchain
145 – 145 T -> A. Abolishes G-protein coupled receptor activity.
147 – 147 S -> A. Nearly abolished G-protein coupled receptor activity.
125 – 128
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;
Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.
Pearce S.H.S.; Bai M.; Quinn S.J.; Kifor O.; Brown E.M.; Thakker R.V.;
J. Clin. Invest. 98:1860-1866(1996)
Cited for: VARIANTS HHC1 LEU-55; ASP-178; SER-221 AND ILE-817; VARIANTS HYPOC1 LEU-128; MET-151 AND LYS-191; VARIANT NSHPT LEU-227; CHARACTERIZATION OF VARIANTS HHC1 LEU-55; ASP-178; SER-221 AND ILE-817; FUNCTION; CHARACTERIZATION OF VARIANTS HYPOC1 LEU-128; MET-151 AND LYS-191; CHARACTERIZATION OF VARIANT NSHPT LEU-227;
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.