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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P41180: Variant p.Arg886Trp

Extracellular calcium-sensing receptor
Gene: CASR
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Variant information Variant position: help 886 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Tryptophan (W) at position 886 (R886W, p.Arg886Trp). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In HHC1. Any additional useful information about the variant.


Sequence information Variant position: help 886 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1078 The length of the canonical sequence.
Location on the sequence: help RNTIEEVRCSTAAHAFKVAA R ATLRRSNVSRKRSSSLGGST 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         RNTIEEVRCSTAAHAFKVAARATLRRSNVSRKRSSSLGGST

Mouse                         RNTIEEVRSSTAAHAFKVAARATLRRPNISRKRSSSLGGST

Rat                           RNTIEEVRSSTAAHAFKVAARATLRRPNISRKRSSSLGGST

Pig                           RNTIEEVRCSTAAHAFKVAARATLRRSNVSRQRSSSLGGST

Bovine                        RNTIEEVRCSTAAHAFKVAARATLRRSNVSRQRSSSLGGST
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 20 – 1078 Extracellular calcium-sensing receptor
Topological domain 855 – 1078 Cytoplasmic
Region 855 – 1078 C-terminus
Region 880 – 900 Interaction with RNF19A
Modified residue 888 – 888 Phosphothreonine; by PKC
Modified residue 892 – 892 Phosphoserine; by PKC
Modified residue 899 – 899 Phosphoserine; by PKA
Mutagenesis 881 – 888 FKVAARAT -> AKVAARAD. Decreased G(q)-mediated G-protein-coupled receptor activity without affecting G(i)-mediated G-protein-coupled signaling.
Mutagenesis 884 – 884 A -> W. Decreased G(q)-mediated G-protein-coupled receptor activity.
Mutagenesis 887 – 887 Missing. Decreased G(q)-mediated G-protein-coupled receptor activity without affecting G(i)-mediated G-protein-coupled signaling.
Mutagenesis 888 – 888 T -> D. Mimics phosphorylation; strongly decreased calcium-induced G-protein-coupled receptor activity.
Mutagenesis 888 – 888 T -> NQK. Does not affect calcium-induced G-protein-coupled receptor activity.
Mutagenesis 888 – 888 T -> V. Decreased calcium-induced G-protein-coupled receptor activity. Strongly decreased calcium-induced G-protein-coupled receptor activity; when associated with A-895 and A-915.
Mutagenesis 895 – 895 S -> A. Slightly decreased calcium-induced G-protein-coupled receptor activity. Strongly decreased calcium-induced G-protein-coupled receptor activity; when associated with A-888 and A-915.



Literature citations
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;
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.