UniProtKB/Swiss-Prot P41180: Variant p.Glu1011Gln

Extracellular calcium-sensing receptor
Gene: CASR
Feedback?

Variant information Variant position:

1011 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 Glutamate (E) to Glutamine (Q) at position 1011 (E1011Q, p.Glu1011Gln). 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 medium size and acidic (E) to medium size and polar (Q) 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
Other resources:

Links to websites of interest for the variant.

Variant rs1801726 [ dbSNP | Ensembl ]

Sequence information Variant position:

1011 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:

NSTHQNSLEAQKSSDTLTRH E PLLPLQCGETDLDLTVQETG 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                         NSTHQNSLEAQKSSDTLTRHEPLLPLQCGETDLDLTVQETG

Mouse                         NSMRQNSLEAQKSNDTLNRHQALLPLQCAEADSEMTIQETG

Rat                           NSMRQNSLEAQRSNDTLGRHQALLPLQCADADSEMTIQETG

Pig                           NSTHQNSLEAQKNNDALTRHQALLPLQCGEADAELTAQETG

Bovine                        NSTHQTSLEAQKNNDALTKHQALLPLQCGETDSELTSQETG

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

Literature citations
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; 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; 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; A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.
Lietman S.A.; Tenenbaum-Rakover Y.; Jap T.S.; Yi-Chi W.; De-Ming Y.; Ding C.; Kussiny N.; Levine M.A.;
J. Clin. Endocrinol. Metab. 94:4372-4379(2009)
Cited for: VARIANT HHC1 ARG-459; VARIANTS SER-986 AND GLN-1011; FUNCTION; CHARACTERIZATION OF VARIANT HHC1 ARG-459;

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.