Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07550: Variant p.Gly16Arg

Beta-2 adrenergic receptor
Gene: ADRB2
Feedback?
Variant information Variant position: help 16
Type of variant: help LB/B
Residue change: help From Glycine (G) to Arginine (R) at position 16 (G16R, p.Gly16Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Polymorphism: help 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.
Other resources: help


Sequence information Variant position: help 16
Protein sequence length: help 413
Location on the sequence: help MGQPGNGSAFLLAPN G SHAPDHDVTQERDEVWVVGM
Residue conservation: help 
Human                         MGQPGNGSAFLLAPNGSHAPDHDVTQERDEVWVVGM

                              MGQPANRSVFLLAPNGSHAPDQGDSQERSEAWVVGM

Rhesus macaque                MGQPGNGSAFLLAPNGSHAPDHDVTQERDEAWVVGM

Mouse                         MGPHGNDSDFLLAPNGSRAPDHDVTQERDEAWVVGM

Rat                           MEPHGNDSDFLLAPNGSRAPGHDITQERDEAWVVGM

Pig                           MGQPGNRSVFLLAPNGSHAPDQDVPQERDEAWVVGM

Bovine                        MGQPGNRSVFLLAPNASHAPDQNVTLERDEAWVVGM

Cat                           MGQPGNRSVFLLAPNGSHAPDQDGTQERNDAWVVGM
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 413 Beta-2 adrenergic receptor
Topological domain 1 – 34 Extracellular
Glycosylation 6 – 6 N-linked (GlcNAc...) asparagine
Glycosylation 15 – 15 N-linked (GlcNAc...) asparagine



Literature citations
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; 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; 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; 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; Genetic polymorphisms of the beta 2-adrenergic receptor in nocturnal and nonnocturnal asthma. Evidence that Gly16 correlates with the nocturnal phenotype.
Turki J.; Pak J.; Green S.A.; Martin R.J.; Liggett S.B.;
J. Clin. Invest. 95:1635-1641(1995)
Cited for: VARIANT ARG-16; POLYMORPHISM;
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.