ADAMTS13 R7W - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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ADAMTS13 R7W

(ADAMTS13 Arg7Trp)


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Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr9:136287582: 9.9% (1069/10758) in EVS
  • T @ chr9:135277402: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 9.9% (1069/10758)

Publications
 

Genomes
 

Other external references
 

    Web search results (39 hits -- see all)
  • Blood -- Modulation of ADAMTS13 secretion and specific ...
    Modulation of ADAMTS13 secretion and specific activity by a combination of ... Surprisingly, R7W and Q448E were positive modifiers of ADAMTS13 secretion in the context ...
    bloodjournal.hematologylibrary.org/cgi/content/full/107/...
  • Microsoft Word - $ASQPlaimauer_et_al_first_edition
    R7W, Q448E and A732V had no or only minor effects on ADAMTS13 secretion. ... The positioning of R7W on the signal peptide of ADAMTS13, together with its ...
    bloodjournal.hematologylibrary.org/.../2005-06-2482v1.pdf
  • Bruno, K (Katharina)
    ... Aneurinibacillus thermoaerophilus DSM 10155. Modulation of ADAMTS13 secretion and... of polymorphisms R7W, Q448E, and A732V had no or only minor effects on ADAMTS13 secretion. ...
    lib.bioinfo.pl/auid:56549
  • Reference to EC No. 3.4.24.B13, ID= 679396
    R7W. mutation has no significant effect on ADAMTS13 secretion. Homo sapiens. Metals/Ions ... ADAMTS13 deficiency and the resultant increase in von Willebrand ...
    brenda-enzymes.info/literature/lit.php4?e=3.4.24.B13&...
  • Congress of the International Society on Thrombosis and ...
    ... structure and function of ADAMTS13 we cloned the ADAMTS13 cDNA in the pcDNA 3.1 ... also found in the Italian population (R7W, P618A, A900V, A1033T), located in the ...
    www.blackwellpublishing.com/isth2003/abstract.asp?id=8494
  • EC 3.4.24.B13 - ADAMTS13 endopeptidase
    Information on EC 3.4.24.B13 - ADAMTS13 endopeptidase ... introduction of polymorphisms R7W, Q448E, and A732V have no or only minor effects on ADAMTS13 secretion. ...
    www.brenda-enzymes.info/php/result_flat.php4?ecno=3.4.24.B13
  • The first deletion mutation in the TSP1-6 repeat domain of ...
    More than 70 ADAMTS13 gene mutations have so far been identified in ... Three common ADAMTS13 intragenic SNPs p.R7W, p.Q448E and p.P618A15 were also identified ...
    www.haematologica.org/cgi/content/full/94/2/289
  • The first deletion mutation in the TSP1-6 repeat domain of ...
    us with the recombinant VWF and the ADAMTS13 wild-type cDNA. ... ADAMTS13 intragenic SNPs p.R7W, p.Q448E and. p.P618A. 15. were also identified in ...
    www.haematologica.org/cgi/reprint/haematol.13524v1.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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