Variant position: 473 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 GVCHNLPGTFECICGPDSAL ARHIGTDCDSGKVD---GGDSGSG
Mouse SECRNFPGSYECICGPDTAL AGQISKDCDPIPVREDTKEEE
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
441 – 481 EGF-like 6; calcium-binding
490 – 490 O-linked (Xyl...) (chondroitin sulfate) serine
492 – 492 O-linked (Xyl...) (chondroitin sulfate) serine
466 – 480
473 – 477
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT VAL-473;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT VAL-473;
A common thrombomodulin amino acid dimorphism is associated with myocardial infarction.
Norlund L.; Holm J.; Zoller B.; Oehlin A.-K.;
Thromb. Haemost. 77:248-251(1997)
Cited for: VARIANT VAL-473;
Thrombomodulin Ala455Val polymorphism and risk of coronary heart disease.
Wu K.K.; Aleksic N.; Ahn C.; Boerwinkle E.; Folsom A.R.; Juneja H.;
Cited for: VARIANT VAL-473;
Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia.
Faioni E.M.; Franchi F.; Castaman G.; Biguzzi E.; Rodeghiero F.;
Br. J. Haematol. 118:595-599(2002)
Cited for: VARIANT THPH12 TYR-486; VARIANT VAL-473;
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.