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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07204: Variant p.Ala43Thr

Thrombomodulin
Gene: THBD
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Variant information Variant position: help 43 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Alanine (A) to Threonine (T) at position 43 (A43T, p.Ala43Thr). 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: help Change from small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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: help In AHUS6; cells transfected with the mutant are less effective in converting C3b to iC3b on the cell surface after complement activation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 43 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 575 The length of the canonical sequence.
Location on the sequence: help PQPGGSQCVEHDCFALYPGP A TFLNASQICDGLRGHLMTVR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         PQPGGSQCVEHDCFALYPGPATFLNASQICDGLRGHLMTVR

                              PQPRSSQCMEHDCFQLFRGPATFLAASQTCEGLGGHLMTVR

Mouse                         LQPTGSQCVEHECFALFQGPATFLDASQACQRLQGHLMTVR
Sequence annotation in neighborhood: help 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 19 – 575 Thrombomodulin
Topological domain 19 – 515 Extracellular
Domain 31 – 169 C-type lectin
Glycosylation 47 – 47 N-linked (GlcNAc...) asparagine



Literature citations
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;
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.