UniProtKB/Swiss-Prot P41180: Variant p.Arg990Gly

Extracellular calcium-sensing receptor
Gene: CASR
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Variant information Variant position:

990 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Arginine (R) to Glycine (G) at position 990 (R990G, p.Arg990Gly). 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:

Change from large size and basic (R) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

Correlated with low serum level of calcium. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1042636 [ dbSNP | Ensembl ]

Sequence information Variant position:

990 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:

SGTVTFSLSFDEPQKNAMAH R NSTHQNSLEAQKSSDTLTRH 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                         SGTVTFSLSFDEPQKNAMAHRNSTHQNSLEAQKSSDTLTRH

Mouse                         SGTVTFSLSFDEPQKNAMAHRNSMRQNSLEAQKSNDTLNRH

Rat                           SGTVTFSLSFDEPQKNAMAHRNSMRQNSLEAQRSNDTLGRH

Pig                           SGTVTFSLSFDEPQKSATAHRNSTHQNSLEAQKNNDALTRH

Bovine                        SGTVTFSLSFDEPQKTAVAHRNSTHQTSLEAQKNNDALTKH

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
Chain	20 – 1078	Extracellular calcium-sensing receptor
Topological domain	863 – 1078	Cytoplasmic
Region	986 – 1006	Disordered

Literature citations
Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs.
Garrett J.E.; Capuano I.V.; Hammerland L.G.; Hung B.C.; Brown E.M.; Hebert S.C.; Nemeth E.F.; Fuller F.;
J. Biol. Chem. 270:12919-12925(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); FUNCTION; VARIANT GLY-990; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-986; GLY-990 AND GLN-1011; Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.
Heath H. III; Odelberg S.; Jackson C.E.; Teh B.T.; Hayward N.; Larsson C.; Buist N.R.; Krapcho K.J.; Hung B.C.; Capuano I.V.; Garrett J.E.; Leppert M.F.;
J. Clin. Endocrinol. Metab. 81:1312-1317(1996)
Cited for: VARIANTS HHC1 PRO-53; LEU-55; GLN-185; GLY-215; TYR-657 AND ARG-748; VARIANTS SER-986; GLY-990 AND GLN-1011; CHARACTERIZATION OF VARIANTS HHC1 PRO-53; LEU-55 AND GLY-215; 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; Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor.
Scillitani A.; Guarnieri V.; De Geronimo S.; Muscarella L.A.; Battista C.; D'Agruma L.; Bertoldo F.; Florio C.; Minisola S.; Hendy G.N.; Cole D.E.C.;
J. Clin. Endocrinol. Metab. 89:5634-5638(2004)
Cited for: VARIANTS SER-986; GLY-990 AND GLN-1011; ASSOCIATION WITH SERUM LEVEL OF CALCIUM; Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.
Warner J.; Epstein M.; Sweet A.; Singh D.; Burgess J.; Stranks S.; Hill P.; Perry-Keene D.; Learoyd D.; Robinson B.; Birdsey P.; Mackenzie E.; Teh B.T.; Prins J.B.; Cardinal J.;
J. Med. Genet. 41:155-160(2004)
Cited for: VARIANTS NSHPT ILE-100; LYS-336 DEL; PRO-650 AND MET-689; VARIANTS SER-986; GLY-990 AND GLN-1011; A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia.
Uckun-Kitapci A.; Underwood L.E.; Zhang J.; Moats-Staats B.;
Am. J. Med. Genet. A 132:125-129(2005)
Cited for: VARIANT HYPOC1 LYS-767; VARIANT GLY-990; 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; 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;

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.