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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P41180: Variant p.Arg898Gln

Extracellular calcium-sensing receptor
Gene: CASR
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Variant information Variant position: help 898 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 Glutamine (Q) at position 898 (R898Q, p.Arg898Gln). 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 medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 EIG8; increased localization to the plasma membrane. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 898 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 AHAFKVAARATLRRSNVSRK R SSSLGGSTGSTPSSSISSKS 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                         AHAFKVAARATLRRSNVSRKRSSSLGGSTGSTPSSSISSKS

Mouse                         AHAFKVAARATLRRPNISRKRSSSLGGSTGSIPSSSISSKS

Rat                           AHAFKVAARATLRRPNISRKRSSSLGGSTGSIPSSSISSKS

Pig                           AHAFKVAARATLRRSNVSRQRSSSLGGSTGSTPSSSISSKS

Bovine                        AHAFKVAARATLRRSNVSRQRSSSLGGSTGSTPSSSISSKS
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
Region 890 – 898 Arginine-rich retention motif
Region 892 – 963 Disordered
Modified residue 888 – 888 Phosphothreonine; by PKC
Modified residue 892 – 892 Phosphoserine; by PKC
Modified residue 899 – 899 Phosphoserine; by PKA
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 890 – 898 RRSNVSRKR -> AASNVSAAA. Increased localization to the plasma membrane.
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.
Mutagenesis 915 – 915 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-895.



Literature citations
An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.
Kapoor A.; Satishchandra P.; Ratnapriya R.; Reddy R.; Kadandale J.; Shankar S.K.; Anand A.;
Ann. Neurol. 64:158-167(2008)
Cited for: VARIANTS EIG8 ALA-354; VAL-686; GLN-898; VAL-988 AND GLY-988; VARIANTS SER-986 AND GLY-990; TISSUE SPECIFICITY; Calcium sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich retention motif.
Stepanchick A.; McKenna J.; McGovern O.; Huang Y.; Breitwieser G.E.;
Cell. Physiol. Biochem. 26:363-374(2010)
Cited for: CHARACTERIZATION OF VARIANT HHC1 PRO-886; CHARACTERIZATION OF VARIANT HIS-896; CHARACTERIZATION OF VARIANT EIG8 GLN-898; SUBCELLULAR LOCATION; DOMAIN; PHOSPHORYLATION AT SER-892 AND SER-899; MUTAGENESIS OF 890-ARG--ARG-898;
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.