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UniProtKB/Swiss-Prot P13945: Variant p.Trp64Arg

Beta-3 adrenergic receptor
Gene: ADRB3
Variant information

Variant position:  64
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 Tryptophan (W) to Arginine (R) at position 64 (W64R, p.Trp64Arg).
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 aromatic (W) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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 variant Arg-64 seems to be associated with weight gain (obesity) and is also associated with susceptibility to non-insulin-dependent diabetes mellitus (NIDDM).
Additional information on the polymorphism described.

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



Sequence information

Variant position:  64
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  408
The length of the canonical sequence.

Location on the sequence:   LALAVLATVGGNLLVIVAIA  W TPRLQTMTNVFVTSLAAADL
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                         LALAVLATVGGNLLVIVAIAWTPRLQTMTNVFVTSLAAADL

                              LALEVLATVGGNLLVIVAIARTPRLQTMTNVFVTSLATADL

Rhesus macaque                LALAVLATVGGNLLVIVAITRTPRLQTMTNVFVTSLAAADL

Mouse                         LA---LATVGGNLLVIIAIARTPRLQTITNVFVTSLAAADL

Rat                           LA---LATVGGNLLVITAIARTPRLQTITNVFVTSLATADL

Pig                           LAPAVLATVGGNLLVIVAIARTPRLQTMTNVFVTSLATADL

Bovine                        LALAVLATVGGNLLVIVAIARTPRLQTMTNVFVTSLATADL

Goat                          LALAVLAIVGGNLLVIVAIARTPRLQTMTNVFVTSLATADL

Sheep                         LALAVLATVGGNLLVIVAIARTPRLQTMTNVFVTSLATADL

Cat                           LALAVLATVGGNLLVIVAIARTPRLQTMTNVFVTSLATADL

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 – 408 Beta-3 adrenergic receptor
Topological domain 64 – 72 Cytoplasmic


Literature citations

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-64 AND CYS-353;

Genetic variation in the beta 3-adrenergic receptor and an increased capacity to gain weight in patients with morbid obesity.
Clement K.; Vaisse C.; Manning B.S.J.; Basdevant A.; Guy-Grand B.; Ruiz J.; Silver K.D.; Shuldiner A.R.; Froguel P.; Strosberg A.D.;
N. Engl. J. Med. 333:352-354(1995)
Cited for: VARIANT ARG-64;

Association of Trp64Arg mutation of the beta3-adrenergic-receptor with NIDDM and body weight gain.
Fujisawa T.; Ikegami H.; Yamato E.; Takekawa K.; Nakagawa Y.; Hamada Y.; Oga T.; Ueda H.; Shintani M.; Fukuda M.; Ogihara T.;
Diabetologia 39:349-352(1996)
Cited for: VARIANT ARG-64;

Pharmacological characterization of a recently described human beta 3-adrenergic receptor mutant.
Candelore M.R.; Deng L.; Tota L.M.; Kelly L.J.; Cascieri M.A.; Strader C.D.;
Endocrinology 137:2638-2641(1996)
Cited for: VARIANT ARG-64;

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.
Halushka M.K.; Fan J.-B.; Bentley K.; Hsie L.; Shen N.; Weder A.; Cooper R.; Lipshutz R.; Chakravarti A.;
Nat. Genet. 22:239-247(1999)
Cited for: VARIANTS ARG-64 AND MET-265;

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.