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UniProtKB/Swiss-Prot P21731: Variant p.Arg60Leu

Thromboxane A2 receptor
Gene: TBXA2R
Variant information

Variant position:  60
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Arginine (R) to Leucine (L) at position 60 (R60L, p.Arg60Leu).
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 medium size and hydrophobic (L)
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:  In BDPLT13; does not affect TXA2 binding; defective interaction with G proteins; impairs phospholipase C and adenylyl cyclase activation; isoform 1; has no effect on adenylyl cyclase inhibition; isoform 2.
Any additional useful information about the variant.

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



Sequence information

Variant position:  60
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  343
The length of the canonical sequence.

Location on the sequence:   ASNLLALSVLAGARQGGSHT  R SSFLTFLCGLVLTDFLGLLV
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                         ASNLLALSVLAGARQGGSHTRSSFLTFLCGLVLTDFLGLLV

Mouse                         GSNLLALSVLAGARPGAG-PRSSFLALLCGLVLTDFLGLLV

Rat                           GSNLLALSVLAGARPGAG-PRSSFLALLCGLVLTDFLGLLV

Bovine                        ASNLLALSVLMGARQGSSQSRSSFLTFLCGLVLTDFMGLLV

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 – 343 Thromboxane A2 receptor
Topological domain 53 – 66 Cytoplasmic


Literature citations

Two thromboxane A2 receptor isoforms in human platelets. Opposite coupling to adenylyl cyclase with different sensitivity to Arg60 to Leu mutation.
Hirata T.; Ushikubi F.; Kakizuka A.; Okuma M.; Narumiya S.;
J. Clin. Invest. 97:949-956(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 329-343 (ISOFORMS 1 AND 2); FUNCTION; ALTERNATIVE SPLICING; CHARACTERIZATION OF VARIANT BDPLT13 LEU-60;

Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder.
Hirata T.; Kakizuka A.; Ushikubi F.; Fuse I.; Okuma M.; Narumiya S.;
J. Clin. Invest. 94:1662-1667(1994)
Cited for: VARIANT BDPLT13 LEU-60; CHARACTERIZATION OF VARIANT BDPLT13 LEU-60;

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.