Sequence information
Variant position: 487 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 533 The length of the canonical sequence.
Location on the sequence:
FTYLPFGAGPRSCLGVRLGL
L EVKLTLLHVLHKFRFQACPE
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 FTYLPFGAGPRSCLGVRLGLL EVKLTLLHVLHKFRFQACPE
Mouse FTYLPFGAGPRSCLGVRLGLL VVKLTILQVLHKFRFEASPE
Rat FTYLPFGAGPRSCLGVRLGLL VVKLTLLQVLHKFRFEACPE
Pig FTYLPFGAGPRSCLGVQLGLL EIKLTLLHILRKFRFEACPE
Bovine YTYLPFGAGPRSCLGVRLGLL ELKLTLLHILRKFRFEACPE
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
Chain
1 – 533
Thromboxane-A synthase
Topological domain
357 – 533
Cytoplasmic
Binding site
479 – 479
axial binding residue
Alternative sequence
460 – 533
Missing. In isoform 4.
Mutagenesis
477 – 477
R -> A. Loss of thromboxane-A synthase activity. Decreased heme-binding.
Mutagenesis
479 – 479
C -> SHY. Loss of thromboxane-A synthase activity. Decreased heme-binding.
Literature citations
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
Genevieve D.; Proulle V.; Isidor B.; Bellais S.; Serre V.; Djouadi F.; Picard C.; Vignon-Savoye C.; Bader-Meunier B.; Blanche S.; de Vernejoul M.-C.; Legeai-Mallet L.; Fischer A.-M.; Le Merrer M.; Dreyfus M.; Gaussem P.; Munnich A.; Cormier-Daire V.;
Nat. Genet. 40:284-286(2008)
Cited for: VARIANTS GHDD PRO-82; GLN-412; TRP-481 AND PRO-487; INVOLVEMENT IN GHDD; MUTAGENESIS OF CYS-479;
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.