Variant position: 127 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 ALEATLSFVAQNKIDSLNLD EFCNCSEHIPSTIAVVGATGS
Mouse ALEATLSFVAQNKIDSLNLD EFCNCSEHIPSTIAVVGATGS
Rat ALEATLSFVAQNKIDSLNLD EFCNCSEHIPSTIAVVGATGS
Pig ALEATLSFVAQNKIDSLNLD EFCNCSEHIPSTIAVVGATGS
Bovine ALEATLSFVAQNKIDSLNLD EFCNCSEHIPSTIAVVGATGS
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
Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.
Pollak M.R.; Brown E.M.; Estep H.L.; McLaine P.N.; Kifor O.; Park J.; Hebert S.C.; Seidman C.E.; Seidman J.G.;
Nat. Genet. 8:303-307(1994)
Cited for: VARIANT HYPOC1 ALA-127;
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;
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