ITGB3 R143Q - GET-Evidence

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

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Curation:
Currentness:

ITGB3 R143Q

(ITGB3 Arg143Gln)


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 (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 ...
    www.genome.jp/dbget-bin/www_bget?omim+173470
  • 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 ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&...
  • 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 ...
    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-...
  • 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 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • 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: ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt
  • 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: ...
    labor-lademannbogen.de/analysen/suche.action.detail.sourc...

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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