ITGB3 R143Q - GET-Evidence

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

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(ITGB3 Arg143Gln)

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 (8 hits -- see all)
  • OMIM: 173470
    These studies showed that the ITGA2B and ITGB3 genes are not closely linked, with ITGA2B ... the ITGB3 gene, resulting in an arg143-to-gln (R143Q) substitution ...
  • AceView: Gene:CIB1, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
  • Memoire Online - Polymorphisme des antigenes plaquettaires ...
    ITGB3. 3690. NM_000212. 176T > C. L33P. L59P. HPA-2. GPIbá. GP1BA. 2811 ... R143Q. R169Q. HPA-5. GPIa. ITGA2. 3673. NM_002203. 1600G > A. E505K. E534K. HPA-6w. GPIIIa. ITGB3 ...
  • 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 ...
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... 566) Polymorphism (dbSNP:rs2405432) ITGB3 P05106 V453I 450 VAR_014178 ...
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... 16959974 OR6C74 A6NCV1 R2G 5 VAR_036981 RSK (0.850) Polymorphism (dbSNP: ...
  • HPA 1-5 - Labor Lademannbogen - Analysen-Spektrum
    Genotypisierung mittels Restriktionsverdau, Hybridisierung oder ... HPA-4 ITGB3 506G>A R143Q. HPA-5 ITGA2 1600G>A E505K. Anforderungsschein. Humangenetik. Stand: ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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