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UniProtKB/Swiss-Prot P08588: Variant p.Arg389Gly

Beta-1 adrenergic receptor
Gene: ADRB1
Chromosomal location: 10q24-q26
Variant information

Variant position:  389
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Glycine (G) at position 389 (R389G, p.Arg389Gly).
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:  Reduced binding to G proteins.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  389
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  477
The length of the canonical sequence.

Location on the sequence:   NSAFNPIIYCRSPDFRKAFQ  R LLCCARRAARRRHATHGDRP
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                         NSAFNPIIYCRSPDFRKAFQRLLCCARRAARRRHATHGDRP

                              NSAFNPIIYCRSPDFRRAFQRLLCCARRAARGSHGAAGDPP

Rhesus macaque                NSAFNPIIYCRSPDFRNAFQRLLCCARRAARRRHAAHGDRP

Mouse                         NSAFNPIIYCRSPDFRKAFQRLLCCARRAACRRRAAHGDRP

Rat                           NSAFNPIIYCRSPDFRKAFQRLLCCARRAACRRRAAHGDRP

Pig                           NSAFNPIIYCRSPDFRKAFQRLLCCARRVARGSCAAAGDGP

Bovine                        NSAFNPIIYCRSPDFRKAFQRLLCCARRAACGSHAAAGDPP

Sheep                         NSAFNPIIYCRSPDFRKAFQRLLCCARRAACGSHGAAGDPP

Cat                           NSAFNPIIYCRSPDFRKAFQRLLCFARRAARGGHAAAGDRP

Xenopus laevis                NSAFNPIIYCRSPDFRKAFKRLLCCPKKADRHLHTT-GELS

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.

TypePositionsDescription
Chain 1 – 477 Beta-1 adrenergic receptor
Topological domain 378 – 477 Cytoplasmic
Lipidation 392 – 392 S-palmitoyl cysteine


Literature citations

Racial differences in the frequencies of cardiac beta(1)-adrenergic receptor polymorphisms: analysis of c145A>G and c1165G>C.
Moore J.D.; Mason D.A.; Green S.A.; Hsu J.; Liggett S.B.;
Hum. Mutat. 14:271-271(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLY-49 AND GLY-389;

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLY-49; GLY-389 AND LEU-389;

The DNA sequence and comparative analysis of human chromosome 10.
Deloukas P.; Earthrowl M.E.; Grafham D.V.; Rubenfield M.; French L.; Steward C.A.; Sims S.K.; Jones M.C.; Searle S.; Scott C.; Howe K.; Hunt S.E.; Andrews T.D.; Gilbert J.G.R.; Swarbreck D.; Ashurst J.L.; Taylor A.; Battles J.; Bird C.P.; Ainscough R.; Almeida J.P.; Ashwell R.I.S.; Ambrose K.D.; Babbage A.K.; Bagguley C.L.; Bailey J.; Banerjee R.; Bates K.; Beasley H.; Bray-Allen S.; Brown A.J.; Brown J.Y.; Burford D.C.; Burrill W.; Burton J.; Cahill P.; Camire D.; Carter N.P.; Chapman J.C.; Clark S.Y.; Clarke G.; Clee C.M.; Clegg S.; Corby N.; Coulson A.; Dhami P.; Dutta I.; Dunn M.; Faulkner L.; Frankish A.; Frankland J.A.; Garner P.; Garnett J.; Gribble S.; Griffiths C.; Grocock R.; Gustafson E.; Hammond S.; Harley J.L.; Hart E.; Heath P.D.; Ho T.P.; Hopkins B.; Horne J.; Howden P.J.; Huckle E.; Hynds C.; Johnson C.; Johnson D.; Kana A.; Kay M.; Kimberley A.M.; Kershaw J.K.; Kokkinaki M.; Laird G.K.; Lawlor S.; Lee H.M.; Leongamornlert D.A.; Laird G.; Lloyd C.; Lloyd D.M.; Loveland J.; Lovell J.; McLaren S.; McLay K.E.; McMurray A.; Mashreghi-Mohammadi M.; Matthews L.; Milne S.; Nickerson T.; Nguyen M.; Overton-Larty E.; Palmer S.A.; Pearce A.V.; Peck A.I.; Pelan S.; Phillimore B.; Porter K.; Rice C.M.; Rogosin A.; Ross M.T.; Sarafidou T.; Sehra H.K.; Shownkeen R.; Skuce C.D.; Smith M.; Standring L.; Sycamore N.; Tester J.; Thorpe A.; Torcasso W.; Tracey A.; Tromans A.; Tsolas J.; Wall M.; Walsh J.; Wang H.; Weinstock K.; West A.P.; Willey D.L.; Whitehead S.L.; Wilming L.; Wray P.W.; Young L.; Chen Y.; Lovering R.C.; Moschonas N.K.; Siebert R.; Fechtel K.; Bentley D.; Durbin R.M.; Hubbard T.; Doucette-Stamm L.; Beck S.; Smith D.R.; Rogers J.;
Nature 429:375-381(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT GLY-389;

A gain-of-function polymorphism in a G-protein coupling domain of the human beta1-adrenergic receptor.
Mason D.A.; Moore J.D.; Green S.A.; Liggett S.B.;
J. Biol. Chem. 274:12670-12674(1999)
Cited for: VARIANT GLY-389;

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.