ITGB3 R489Q - GET-Evidence

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

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(ITGB3 Arg489Gln)

Short summary


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


Insufficiently evaluated pathogenic

(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

  • None available.



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. ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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