ADAMTS13 P618A - GET-Evidence

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

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Curation:
Currentness:

ADAMTS13 P618A

(ADAMTS13 Pro618Ala)


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

  • G @ chr9:136305530: 6.3% (676/10758) in EVS
  • G @ chr9:135295350: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 6.3% (676/10758)

Publications
 

Genomes
 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr9:136305530

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr9:136305530

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr9:136305530

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr9:136305530

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr9:135295351

 

Other external references
 

    dbSNP
  • rs28647808
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.998 (probably damaging)
    Web search results (43 hits -- see all)
  • Blood -- Modulation of ADAMTS13 secretion and specific ...
    Modulation of ADAMTS13 secretion and specific activity by a ... In contrast, P618A, R1336W, and the A732V-P618A combination strongly reduced ADAMTS13-specific activity and ...
    bloodjournal.hematologylibrary.org/cgi/content/abstract/...
  • Bruno, K (Katharina)
    ... Aneurinibacillus thermoaerophilus DSM 10155. Modulation of ADAMTS13 secretion and... positive modifiers of ADAMTS13 secretion in the context of P618A and A732V but neither ...
    lib.bioinfo.pl/auid:56549
  • Microsoft Word - $ASQPlaimauer_et_al_first_edition
    Sequence analysis of the ADAMTS13 locus of two hereditary thrombotic ... positive modifiers of ADAMTS13 secretion in the context of P618A and A732V, but ...
    bloodjournal.hematologylibrary.org/.../2005-06-2482v1.pdf
  • EC 3.4.24.B13 - ADAMTS13 endopeptidase
    Information on EC 3.4.24.B13 - ADAMTS13 endopeptidase ... In contrast, P618A, R1336W, and the A732V/P618A combination strongly reduce ADAMTS13-specific activity and ...
    www.brenda-enzymes.info/php/result_flat.php4?ecno=3.4.24.B13
  • Congress of the International Society on Thrombosis and ...
    ... and function of ADAMTS13 we cloned the ADAMTS13 cDNA in the pcDNA ... also found in the Italian population (R7W, P618A, A900V, A1033T), located in the gene region encoding ...
    www.blackwellpublishing.com/isth2003/abstract.asp?id=8494
  • Congress of the International Society on Thrombosis and ...
    Methods: We measured ADAMTS13 activity in plasma by the residual ristocetin ... ADAMTS13 (2), transiently expressed mutant ADAMTS13 in HEK293 cells (3) and ...
    www.blackwellpublishing.com/isth2007/abstract.asp?id=66863
  • Reference to EC No. 3.4.24.B13, ID= 679396
    ADAMTS13 deficiency and the resultant increase in von Willebrand ... P618A/A732V. mutation induces secretion deficiency. Homo sapiens. Q448E. mutation has no ...
    brenda-enzymes.info/literature/lit.php4?e=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. ... explained by the presence of the p.P618A. polymorphism, which was previously shown to be ...
    www.haematologica.org/cgi/reprint/haematol.13524v1.pdf
  • Avaliação das variantes genéticas funcionais trombogênicas ...
    A metaloprotease ADAMTS13 é responsável pela clivagem do fator de von Willebrand e ... C1852G (P618A) e C2699T (A900V) da metaloprotease ADAMTS13 em 611 ...
    teses.usp.br/teses/disponiveis/5/5131/tde-24062008-145244

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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