Variant position: 820 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 NFNEAKFITFSMLIFFIVWI SFIPAYASTYGKFVSAVEVIA
Mouse NFNEAKFITFSMLIFFIVWI SFIPAYASTYGKFVSAVEVIA
Rat NFNEAKFITFSMLIFFIVWI SFIPAYASTYGKFVSAVEVIA
Pig NFNEAKFITFSMLIFFIVWI SFIPAYASTYGKFVSAVEVIA
Bovine NFNEAKFITFSMLIFFIVWI SFIPAYASTYGKFVSAVEVIA
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
806 – 828 Helical; Name=6
A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor.
Nagase T.; Murakami T.; Tsukada T.; Kitamura R.; Chikatsu N.; Takeo H.; Takata N.; Yasuda H.; Fukumoto S.; Tanaka Y.; Nagata N.; Yamaguchi K.; Akatsu T.; Yamamoto M.;
J. Clin. Endocrinol. Metab. 87:2681-2687(2002)
Cited for: VARIANT HYPOC1 PHE-820; CHARACTERIZATION OF VARIANT HYPOC1 PHE-820; VARIANT GLY-990;
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.