Variant position: 47 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 QKKGDIILGGLFPIHFGVAA KDQDLKSRPESVECIRYNFRG
Mouse QKKGDIILGGLFPIHFGVAA KDQDLKSRPESVECIRYNFRG
Rat QKKGDIILGGLFPIHFGVAA KDQDLKSRPESVECIRYNFRG
Pig QKKGDIILGGLFPIHFGVAA KDQNLESRPESVECIRYNFRG
Bovine QKKGDIILGGLFPIHFGVAV KDQDLKSRPESVECIRYNFRG
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)
A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.
Okazaki R.; Chikatsu N.; Nakatsu M.; Takeuchi Y.; Ajima M.; Miki J.; Fujita T.; Arai M.; Totsuka Y.; Tanaka K.; Fukumoto S.;
J. Clin. Endocrinol. Metab. 84:363-366(1999)
Cited for: VARIANT HYPOC1 ASN-47; CHARACTERIZATION OF VARIANT HYPOC1 ASN-47;
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