ADAMTS13 Q448E - GET-Evidence

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

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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 June 22, 2011 at 11:58pm 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
 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
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

 

snp-6

 

Deleted in this revision:

snp-6

 

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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