ADAMTS13 Q448E - GET-Evidence

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Curation:
Currentness:

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ADAMTS13 Q448E

(ADAMTS13 Gln448Glu)


You are viewing an old version of this page that was saved on November 29, 2012 at 4:52am by Genome Importing Robot.

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 @ chr9:136301982: 29.7% (3178/10704) in EVS
  • G @ chr9:135291802: 21.8% (24/110) in GET-Evidence
  • Frequency shown in summary reports: 29.7% (3178/10704)

Publications
 

Genomes
 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr9:136301982

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom G @ chr9:136301982

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom G @ chr9:136301982

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr9:136301982

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr9:136301982

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr9:136301982

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr9:136301982

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr9:136301982

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom G @ chr9:136301982

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr9:136301982

 

Added in this revision:

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr9:136301982

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr9:135291803

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr9:135291803

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr9:135291803

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr9:135291803

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr9:135291803

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr9:135291803

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr9:135291803

 

GS19735 - var-GS19735-1100-36-ASM
hom G @ chr9:135291803

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr9:135291803

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr9:135291803

 

Other external references
 

    dbSNP
  • rs2301612
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (49 hits -- see all)
  • Blood -- Modulation of ADAMTS13 secretion and specific ...
    Modulation of ADAMTS13 secretion and specific activity by a ... Surprisingly, R7W and Q448E were positive modifiers of ADAMTS13 secretion in the context ...
    bloodjournal.hematologylibrary.org/cgi/content/full/107/...
  • 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
  • Microsoft Word - $ASQPlaimauer_et_al_first_edition
    R7W, Q448E and A732V had no or only minor effects on ADAMTS13 secretion. ... positive modifiers of ADAMTS13 secretion in the context of P618A and A732V, but ...
    bloodjournal.hematologylibrary.org/.../2005-06-2482v1.pdf
  • Reference to EC No. 3.4.24.B13, ID= 679396
    Q448E. mutation has no significant effect on ADAMTS13 secretion. Homo sapiens. R1336 ... ADAMTS13 deficiency and the resultant increase in von Willebrand ...
    brenda-enzymes.info/literature/lit.php4?e=3.4.24.B13&...
  • 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
  • Mutations and common polymorphisms in ADAMTS13 gene ...
    Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor ... Because Q448E and C508Y were located on a single allele, the effect of each of ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC129366
  • 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
  • Congress of the International Society on Thrombosis and ...
    Introduction: Severe reduction of plasma ADAMTS13 activities is a well-established risk ... The Q448E heterozygosity and homozygosity led to an increase in ...
    www.blackwellpublishing.com/isth2007/abstract.asp?id=66160
  • Avaliação das variantes genéticas funcionais trombogênicas ...
    A metaloprotease ADAMTS13 é responsável pela clivagem do fator de von Willebrand ... H2 haplotypes and ADAMTS13 polymorphisms C1342G (Q448E), C1852G (P618A) and ...
    teses.usp.br/teses/disponiveis/5/5131/tde-24062008-145244
  • Homo sapiens diseases - Alterations of platelets
    In normal individuals, ADAMTS13 enzyme molecules from the plasma ... Each ADAMTS13 molecule may dock via one or both of its C-terminal CUB domains, ...
    focosi.altervista.org/pathohomotissueblood_platelet.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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