Variant position: 43 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 575 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 PQPGGSQCVEHDCFALYPGP ATFLNASQICDGLRGHLMTVR
Mouse LQPTGSQCVEHECFALFQGP ATFLDASQACQRLQGHLMTVR
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
19 – 575 Thrombomodulin
19 – 515 Extracellular
31 – 169 C-type lectin
47 – 47 N-linked (GlcNAc...) asparagine
Thrombomodulin gene variations and thromboembolic disease.
Oehlin A.-K.; Norlund L.; Marlar R.A.;
Thromb. Haemost. 78:396-400(1997)
Cited for: VARIANT THPH12 TYR-486; VARIANTS THR-43; ALA-79; SER-495 AND LEU-501;
A mutation in the thrombomodulin gene, 127G to A coding for Ala25Thr, and the risk of myocardial infarction in men.
Doggen C.J.M.; Kunz G.; Rosendaal F.R.; Lane D.A.; Vos H.L.; Stubbs P.J.; Manger Cats V.; Ireland H.;
Thromb. Haemost. 80:743-748(1998)
Cited for: VARIANT THR-43;
Thrombomodulin mutations in atypical hemolytic-uremic syndrome.
Delvaeye M.; Noris M.; De Vriese A.; Esmon C.T.; Esmon N.L.; Ferrell G.; Del-Favero J.; Plaisance S.; Claes B.; Lambrechts D.; Zoja C.; Remuzzi G.; Conway E.M.;
N. Engl. J. Med. 361:345-357(2009)
Cited for: VARIANTS AHUS6 THR-43; GLY-53; LEU-81; TYR-486; SER-495 AND LEU-501; CHARACTERIZATION OF VARIANTS AHUS6 THR-43; GLY-53; LEU-81; TYR-486; SER-495 AND LEU-501; VARIANT VAL-473;
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.