Variant position: 136 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 AQNKIDSLNLDEFCNCSEHI PSTIAVVGATGSGVSTAVANL
Mouse AQNKIDSLNLDEFCNCSEHI PSTIAVVGATGSGVSTAVANL
Rat AQNKIDSLNLDEFCNCSEHI PSTIAVVGATGSGVSTAVANL
Pig AQNKIDSLNLDEFCNCSEHI PSTIAVVGATGSGISTAVANL
Bovine AQNKIDSLNLDEFCNCSEHI PSTIAVVGATGSGISTAVANL
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.
Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.
Baran N.; ter Braak M.; Saffrich R.; Woelfle J.; Schmitz U.;
Mol. Cell. Endocrinol. 407:18-25(2015)
Cited for: VARIANT HYPOC1 LEU-136; FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT HYPOC1 LEU-136;
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.