ITGB3 S752P - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

ITGB3 S752P

(ITGB3 Ser752Pro)


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 (4 hits -- see all)
  • OMIM: 173470
    These studies showed that the ITGA2B and ITGB3 genes are not closely linked, with ITGA2B ... the ITGA2B and ITGB3 genes are point mutations: 10 in ITGB3 and 12 in ...
    www.genome.jp/dbget-bin/www_bget?omim+173470
  • Blood -- Integrin Signaling: The Platelet Paradigm
    Alert me to new issues of the journal. Download to citation manager ... exhibits a point mutation in 3 (3 S752P),106 the other exhibits a deletion of the ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../2645
  • L718P mutation in the membrane-proximal cytoplasmic tail of 3 ...
    S752P, 15. and IVS14-3C>G, 16. were found in homozygosis associated. to variant forms of GT ... patient prompted the sequence analysis of the ITGA2B and ITGB3 genes. ...
    www.haematologica.org/cgi/reprint/haematol.2009.018572v1.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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