Sequence information
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:
AQNKIDSLNLDEFCNCSEHI
P STIAVVGATGSGVSTAVANL
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 AQNKIDSLNLDEFCNCSEHIP STIAVVGATGSGVSTAVANL
Mouse AQNKIDSLNLDEFCNCSEHIP STIAVVGATGSGVSTAVANL
Rat AQNKIDSLNLDEFCNCSEHIP STIAVVGATGSGVSTAVANL
Pig AQNKIDSLNLDEFCNCSEHIP STIAVVGATGSGISTAVANL
Bovine AQNKIDSLNLDEFCNCSEHIP STIAVVGATGSGISTAVANL
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
145 – 145
Binding site
147 – 147
Glycosylation
130 – 130
N-linked (GlcNAc...) asparagine
Disulfide bond
129 – 129
Interchain
Disulfide bond
131 – 131
Interchain
Mutagenesis
145 – 145
T -> A. Abolishes G-protein coupled receptor activity.
Mutagenesis
147 – 147
S -> A. Nearly abolished G-protein coupled receptor activity.
Literature citations
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;
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.