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UniProtKB/Swiss-Prot P08588: Variant p.Ser49Gly

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

Variant position:  49
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 Serine (S) to Glycine (G) at position 49 (S49G, p.Ser49Gly).
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 small size and polar (S) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  Associated with high mean resting heart rate.
Any additional useful information about the variant.

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



Sequence information

Variant position:  49
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:   AARLLVPASPPASLLPPASE  S PEPLSQQWTAGMGLLMALIV
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                         AARLLVPASPPASLLPPASESPEPLSQQWTAGMGLLMALIV

                              AARLLVPASPSASPLAPTSEGPAPLSQQWTAGIGLLMALIV

Rhesus macaque                AARLLVPASPPASLLPPASEGPEPLSQQWTAGMGLLMALIV

Mouse                         AARLLVLASPPASLLPPASEGSAPLSQQWTAGMGLLLALIV

Rat                           AARLLVLASPPASLLPPASEGSAPLSQQWTAGMGLLLALIV

Pig                           AARLLVPASPPASLLTPASEGSVQLSQQWTAGMGLLMALIV

Bovine                        AARLLVPASPPASLLTSASEGPPLPSQQWTAGMGLLMAFIV

Sheep                         AARLLVPXSPLRLAADLGQRGTPLLSQQWTVGMGLLMAFIV

Cat                           AARLLVPASPSASPLTPTSEGPAPLSQQWTAGIGLLMALIV

Xenopus laevis                ------PTTVPSPMHPL-----PELTHQWTMGMTMFMAAII

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 1 – 55 Extracellular


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;

A novel polymorphism in the gene coding for the beta(1)-adrenergic receptor associated with survival in patients with heart failure.
Borjesson M.; Magnusson Y.; Hjalmarson A.; Andersson B.;
Eur. Heart J. 21:1853-1858(2000)
Cited for: VARIANT GLY-49;

A polymorphism in the beta1 adrenergic receptor is associated with resting heart rate.
Ranade K.; Jorgenson E.; Sheu W.H.-H.; Pei D.; Hsiung C.A.; Chiang F.-T.; Chen Y.-D.I.; Pratt R.; Olshen R.A.; Curb D.; Cox D.R.; Botstein D.; Risch N.;
Am. J. Hum. Genet. 70:935-942(2002)
Cited for: VARIANT GLY-49;

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.