ADAMTS13 A1033T - GET-Evidence

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

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Curation:
Currentness:

ADAMTS13 A1033T

(ADAMTS13 Ala1033Thr)


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

  • A @ chr9:136319589: 2.8% (306/10758) in EVS
  • A @ chr9:135309409: 4.0% (5/126) in GET-Evidence
  • Frequency shown in summary reports: 2.8% (306/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr9:136319589

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr9:136319589

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr9:135309410

 

Other external references
 

    dbSNP
  • rs28503257
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.712 (possibly damaging)
    Web search results (8 hits -- see all)
  • Congress of the International Society on Thrombosis and ...
    ... structure and function of ADAMTS13 we cloned the ADAMTS13 cDNA in the pcDNA 3.1 mammalian expression vector ... mutants A900V, R7W, P618A and A1033T compared with the wild type ...
    www.blackwellpublishing.com/isth2003/abstract.asp?id=8494
  • Congress of the International Society on Thrombosis and ...
    We have screened the ADAMTS13 gene in 14 acquired TTP patients (10 females, 4 ... low levels of ADAMTS13 activity and 8/14 patients possessed ADAMTS13 inhibitor. ...
    blackwellpublishing.com/isth2005/abstract.asp?id=47249
  • Mutations and common polymorphisms in ADAMTS13 gene ...
    ( 22) identified 12 mutations of ADAMTS13 in seven families of patients ... A900V, and A1033T) in 92 unrelated normal control DNA samples, although their effects on ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC129366
  • Nature V413, 488
    A1033T. ex24. 3108G>A. silent. int28. 4077+32T>C. N/A. ex29. 4221C>A. silent ... ADAMTS13 intron 13 donor splice site is shown schematically on the right, compared to the ...
    nature.com/nature/journal/v413/n6855/extref/413488a0_S1.htm
  • ADAMTS13 GENES AND PROTEINS AND VARIANTS, AND THERAPEUTIC ...
    Patent application title: ADAMTS13 GENES AND PROTEINS AND VARIANTS, ... A recombinant ADAMTS13 according to claim 5, wherein the chromatography is ...
    www.faqs.org/patents/app/20090304672
  • ADAMTS13 genes and proteins and variants, and uses thereof ...
    The present invention relates to a disintegrin and metalloproteinase containing thrombospondin 1-like domains (ADAMTS) and in particular to a novel ADAMTS13
    patents.com/adamts13-genes-proteins-variants-uses-thereof...
  • ADAMTS13 genes and proteins and variants and therapeutic ...
    The present invention relates to a disintegrin and metalloproteinase containing thrombospondin 1-like domains (ADAMTS) and in particular to a novel ADAMTS13 protease ...
    www.freepatentsonline.com/7517522.html

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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