SH2D1A T68I - GET-Evidence

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

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Curation:
Currentness:

SH2D1A T68I

(SH2D1A Thr68Ile)


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
 

    GeneTests
  • GeneTests records for the SH2D1A gene
    Lymphoproliferative Disease, X-Linked
    SH2D1A-Related Lymphoproliferative Disease, X-Linked
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SH2D1A
    PolyPhen-2
  • Score: 0.961 (probably damaging)
    Web search results (21 hits -- see all)
  • Characterization of SH2D1A missense mutations identified in ...
    Characterization of SH2D1A missense mutations identified in X-linked ... between the SH2D1A hydrophobic cleft and Val +3 of its binding motif (e.g. T68I) and mutations that ...
    www.ncbi.nlm.nih.gov/pubmed/11477068
  • SH2D1A
    A novel gene, SH2D1A, mutated in XLP families has. recently been identified by a ... Expression of the 2.5 kb SH2D1A transcript. has been demonstrated in ...
    hmg.oxfordjournals.org/cgi/reprint/8/13/2407.pdf
  • The BioGRID | PUBLICATION VIEW
    The XLP disease gene product SH2D1A (SAP) interacts via its SH2 domain with a motif ... the SH2D1A hydrophobic cleft and Val +3 of its binding motif (e.g. T68I) and mutations ...
    www.thebiogrid.org/ViewPublication/8793
  • Epstein-Barr virus-negative boys with non-Hodgkin lymphoma ...
    We have recently cloned the SH2D1A gene, which has been shown to be mutated in ... Aside from the finding of further SH2D1A mutations in XLP patients we ...
    hmg.oxfordjournals.org/cgi/content/full/8/13/2407
  • SH2 missense mutations
    A0014: Classical XLP A0015: Classical XLP A0016: Classical XLP ... T68I. A0017: Classical XLP. V102G. A0071: Classical XLP. Y54C. A0059: Classical XLP. Y7C. A0049: ...
    bioinf.uta.fi/SH2base/SH2D1A.html
  • A 'three-pronged' binding mechanism for the SAP/SH2D1A SH2 ...
    In line with this possibility, SAP/SH2D1A was found to bind to the ... Thus, mutants R32Q, C42W, T53I and T68I all involve residues interacting with the 'prongs' ...
    www.nature.com/emboj/journal/v21/n3/full/7594252a.html
  • Altered lymphocyte responses and cytokine production in mice ...
    We have introduced a targeted mutation in SH2D1A/DSHP/SAP, the gene responsible for the ... by PCR using a 3′ primer to incorporate the T68I mutation (atgtactCtagatgctatctggaa) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC34689
  • SAP increases FynT kinase activity and is required for ...
    disease gene SH2D1A, controls signal transduction initiated by engagement of the ... T68I, bound to FynT in a fashion similar to that observed for ...
    intimm.oxfordjournals.org/cgi/reprint/16/5/727.pdf
  • Evaluation of accuracy and applicability of protein models ...
    ... domains in BTK and SH2D1A, and a plekstrin homology (PH) domain and kinase domain both in BTK. ... Mutants E67D and T68I were assumed to affect the pY+3 binding site and were ...
    www.bioinfo.de/isb/2009/09/0025
  • SAP increases FynT kinase activity and is required for ...
    ... SH2D1A, controls signal transduction initiated by engagement of the SLAM-related receptors in T and NK cells. ... R32Q, T53I and T68I, bound to FynT in a fashion similar to that ...
    intimm.oxfordjournals.org/cgi/content/full/16/5/727

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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