Variant position: 562 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 CSRDCLAGTRKGIIEGEPTC CFECVECPDGEYSDETDASAC
Mouse CSRDCQAGTRKGIIEGEPTC CFECVECPDGEYSGETDASAC
Rat CSRDCQAGTRKGIIEGEPTC CFECVECPDGEYSGETDASAC
Pig CSRDCLAGTRKGIIEGEPTC CFECVECPDGEYSDETDASAC
Bovine CSRDCLAGTRKGIIEGEPTC CFECVECPDGEYSDETDASAC
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.
Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.
Nissen P.H.; Christensen S.E.; Heickendorff L.; Brixen K.; Mosekilde L.;
J. Clin. Endocrinol. Metab. 92:4373-4379(2007)
Cited for: VARIANTS HHC1 ARG-21; ASN-171; GLN-221; THR-225; PHE-271; ARG-397; ARG-509; ARG-553; VAL-555; TYR-562; PHE-582; TYR-582; ASP-623; ARG-670; PHE-728; ARG-742 AND TRP-886; VARIANTS LYS-250; SER-986; GLY-990 AND GLN-1011;
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;
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.