ITGB3 R489Q - GET-Evidence

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

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Curation:
Currentness:

ITGB3 R489Q

(ITGB3 Arg489Gln)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (3 hits -- see all)
  • OMIM: 173470
    These studies showed that the ITGA2B and ITGB3 genes are not closely linked, with ITGA2B ... transition in the ITGB3 gene, resulting in an arg489-to-gln (R489Q) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+173470
  • Memoire Online - Polymorphisme des antigenes plaquettaires ...
    ITGB3. 3690. NM_000212. 1544G > A. R489Q. R515Q. HPA-7w. GPIIIa. ITGB3. 3690 ... ITGB3. 3690. NM_000212. 1909_1911 del AAG. K611del. K637del. HPA-15. CD109. CD109. 135228 ...
    memoireonline.com/11/09/2888/m_Polymorphisme-des-antigene...
  • Memoire Online - Polymorphisme des antigenes plaquettaires ...
    N. V et al., 1988) et GPIIIa (ITGB3) qui sont localisés sur le bras long du ... ITGB3 qui conduit à une substitution Leu33Val pour donner un troisième allèle HPA-1(ITGB3 ...
    memoireonline.com/11/09/2888/Polymorphisme-des-antigenes-...

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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