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UniProtKB/Swiss-Prot P07550: Variant p.Ile159Phe

Beta-2 adrenergic receptor
Gene: ADRB2
Variant information

Variant position:  159
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 Isoleucine (I) to Phenylalanine (F) at position 159 (I159F, p.Ile159Phe).
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 hydrophobic (I) to large size and aromatic (F)
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

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.



Sequence information

Variant position:  159
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:   FKYQSLLTKNKARVIILMVW  I VSGLTSFLPIQMHWYRATHQ
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                         FKYQSLLTKNKARVIILMVWIVSGLTSFLPIQMHWYRATHQ

                              FKYQSLLTKNKARVVILMVWIVSGLTSFLPIQMHWYRATHQ

Rhesus macaque                FKYQSLLTKNKARVIILMVWIVSGLTSFLPIQMHWYRATHQ

Mouse                         FKYQSLLTKNKARVVILMVWIVSGLTSFLPIQMHWYRATHK

Rat                           FKYQSLLTKNKARVVILMVWIVSGLTSFLPIQMHWYRATHK

Pig                           FKYQCLLTKNKARVVILMVWVVSGLISFLPIKMHWYQATHR

Bovine                        FKYQCLLTKNKARVVILMVWIVSGLTSFLPIQMHWYRASHK

Cat                           FKYQSLLTKNKARVVILMVWIVSGLTSFLPIQMHWYRATHQ

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 – 413 Beta-2 adrenergic receptor
Transmembrane 151 – 174 Helical; Name=4
Modified residue 141 – 141 Phosphotyrosine
Disulfide bond 106 – 191
Mutagenesis 141 – 141 Y -> F. Abolishes insulin-induced tyrosine phosphorylation and insulin-induced receptor supersensitization.
Helix 147 – 170


Literature citations

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;

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.