Variant position: 802 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 LLAAICFFFAFKSRKLPENF NEAKFITFSMLIFFIVWISFI
Mouse LLAAICFFFAFKSRKLPENF NEAKFITFSMLIFFIVWISFI
Rat LLAAICFFFAFKSRKLPENF NEAKFITFSMLIFFIVWISFI
Pig LLAAICFFFAFKSRKLPENF NEAKFITFSMLIFFIVWISFI
Bovine LLAAICFFFAFKSRKLPENF NEAKFITFSMLIFFIVWISFI
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
793 – 805 Cytoplasmic
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.
Cole D.E.; Yun F.H.; Wong B.Y.; Shuen A.Y.; Booth R.A.; Scillitani A.; Pidasheva S.; Zhou X.; Canaff L.; Hendy G.N.;
J. Mol. Endocrinol. 42:331-339(2009)
Cited for: VARIANTS HHC1 SER-42; LEU-55; HIS-66; MET-81; MET-138; ARG-143; ARG-158; GLY-166; TRP-220; ARG-549; TYR-562; GLY-565; TYR-582; 583-ASN--SER-1078 DEL; TYR-661; HIS-680; ILE-761 DEL AND TRP-795; VARIANTS HYPOC1 LYS-118; PHE-125; ARG-129; LYS-228; LYS-604; ILE-802; SER-830; LEU-832 AND SER-832;
Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.
Lia-Baldini A.S.; Magdelaine C.; Nizou A.; Airault C.; Salles J.P.; Moulin P.; Delemer B.; Aitouares M.; Funalot B.; Sturtz F.; Lienhardt-Roussie A.;
Eur. J. Endocrinol. 168:K27-K34(2013)
Cited for: VARIANT HHC1 SER-802; VARIANT HYPOC1 ILE-802;
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