UniProtKB/Swiss-Prot P07550: Variant p.Glu27Gln

Beta-2 adrenergic receptor
Gene: ADRB2
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Variant information Variant position:

27 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 27 (E27Q, p.Glu27Gln). 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
Polymorphism:

The Gly-16 allele is overrepresented in individuals affected by nocturnal asthma as compared to controls, and appears to be an important genetic factor in the expression of this asthmatic phenotype. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs1042714 [ dbSNP | Ensembl ]

Sequence information Variant position:

27 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

413 The length of the canonical sequence.
Location on the sequence:

GSAFLLAPNGSHAPDHDVTQ E RDEVWVVGMGIVMSLIVLAI 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                         GSAFLLAPNGSHAPDHDVTQERDEVWVVGMGIVMSLIVLAI

                              RSVFLLAPNGSHAPDQGDSQERSEAWVVGMGIVMSLIVLAI

Rhesus macaque                GSAFLLAPNGSHAPDHDVTQERDEAWVVGMGIVMSLIVLAI

Mouse                         DSDFLLAPNGSRAPDHDVTQERDEAWVVGMAILMSVIVLAI

Rat                           DSDFLLAPNGSRAPGHDITQERDEAWVVGMAILMSVIVLAI

Pig                           RSVFLLAPNGSHAPDQDVPQERDEAWVVGMAIVMSLIVLAI

Bovine                        RSVFLLAPNASHAPDQNVTLERDEAWVVGMGILMSLIVLAI

Cat                           RSVFLLAPNGSHAPDQDGTQERNDAWVVGMGIVMSLIVLAI

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	1 – 413	Beta-2 adrenergic receptor
Topological domain	1 – 34	Extracellular
Glycosylation	15 – 15	N-linked (GlcNAc...) asparagine
Beta strand	25 – 27

Literature citations
Cloning and sequence analysis of the human brain beta-adrenergic receptor. Evolutionary relationship to rodent and avian beta-receptors and porcine muscarinic receptors.
Chung F.-Z.; Lentes K.-U.; Gocayne J.D.; Fitzgerald M.G.; Robinson D.A.; Kerlavage A.R.; Fraser C.M.; Venter J.C.;
FEBS Lett. 211:200-206(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLN-27; Delineation of the intronless nature of the genes for the human and hamster beta 2-adrenergic receptor and their putative promoter regions.
Kobilka B.K.; Frielle T.; Dohlman H.G.; Bolanowski M.A.; Dixon R.A.F.; Keller P.; Caron M.G.; Lefkowitz R.J.;
J. Biol. Chem. 262:7321-7327(1987)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-16 AND GLN-27; Primary structure of the human beta-adrenergic receptor gene.
Schofield P.R.; Rhee L.M.; Peralta E.G.;
Nucleic Acids Res. 15:3636-3636(1987)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-16 AND GLN-27; cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor.
Kobilka B.K.; Dixon R.A.F.; Frielle T.; Dohlman H.G.; Bolanowski M.A.; Sigal I.S.; Yang-Feng T.L.; Francke U.; Caron M.G.; Lefkowitz R.J.;
Proc. Natl. Acad. Sci. U.S.A. 84:46-50(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ARG-16 AND GLN-27; Structure of the gene for human beta 2-adrenergic receptor: expression and promoter characterization.
Emorine L.J.; Marullo S.; Delavier-Klutchko C.; Kaveri S.V.; Durieu-Trautmann O.; Strosberg A.D.;
Proc. Natl. Acad. Sci. U.S.A. 84:6995-6999(1987)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLN-27; Mutations in the gene encoding for the beta 2-adrenergic receptor in normal and asthmatic subjects.
Reihsaus E.; Innis M.; Macintyre N.; Liggett S.B.;
Am. J. Respir. Cell Mol. Biol. 8:334-339(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-16; GLN-27; MET-34 AND ILE-164; Beta2-adrenergic receptor allele frequencies in the Quechua, a high altitude native population.
Rupert J.L.; Monsalve M.V.; Devine D.V.; Hochachka P.W.;
Ann. Hum. Genet. 64:135-143(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-27; LEU-159; PHE-159 AND ARG-375; cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org).
Puhl H.L. III; Ikeda S.R.; Aronstam R.S.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS ARG-16 AND GLN-27; Submission
Suzuki Y.; Sugano S.; Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT GLN-27; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-27 AND CYS-220; Submission
NHLBI resequencing and genotyping service (RS&G);
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLN-27; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS ARG-16 AND GLN-27; Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties.
Green S.A.; Turki J.; Innis M.; Ligget S.B.;
Biochemistry 33:9414-9419(1994)
Cited for: VARIANTS ARG-16 AND GLN-27; CHARACTERIZATION; FUNCTION; SUBCELLULAR LOCATION;

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.