ADAMTS13 Q448E - GET-Evidence

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

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(ADAMTS13 Gln448Glu)

You are viewing the latest version of this page, saved on November 29, 2012 at 7:39am by Genome Importing Robot.

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


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)



hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr9:136301982



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


hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het G @ chr9:136301982


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr9:136301982


hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom G @ chr9:136301982



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


hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom G @ chr9:136301982


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


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
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



huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom 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


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


Added in this revision:

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
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

  • rs2301612
  • 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 ...
  • 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. ...
  • 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 ...
  • 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 ...
  • 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. ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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, ...

Other in silico analyses

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

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Gene search

"GENE" or "GENE A123C":

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