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:
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 ASNLLALSVLAGARQGGSHT RSSFLTFLCGLVLTDFLGLLV
Mouse GSNLLALSVLAGARPGAG-P RSSFLALLCGLVLTDFLGLLV
Rat GSNLLALSVLAGARPGAG-P RSSFLALLCGLVLTDFLGLLV
Bovine ASNLLALSVLMGARQGSSQS RSSFLTFLCGLVLTDFMGLLV
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.
Type Positions Description
1 – 343 Thromboxane A2 receptor
53 – 66 Cytoplasmic
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;
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