SH2D1A R55L - GET-Evidence

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

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Curation:
Currentness:

SH2D1A R55L

(SH2D1A Arg55Leu)


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: 1.0 (probably damaging)
    Web search results (7 hits -- see all)
  • Optimal Germinal Center Responses Require A Multistage T Cell ...
    Inactivating mutations in Sh2d1a, which encodes the adaptor ... Analyses of SAP-deficient (Sh2d1a. À/À ) mice revealed a T cell- intrinsic defect in ...
    download.cell.com/immunity/pdf/...?scriptOff=true
  • SH2 missense mutations
    A0014: Classical XLP A0015: Classical XLP A0016: Classical XLP ... R55L. A0083: Classical XLP. S28R. A0050: Classical XLP. T53R. A0058: Classical XLP. T68I. A0017: ...
    bioinf.uta.fi/SH2base/SH2D1A.html
  • Molecular Dissection of 2B4 Signaling: Implications for ...
    ... through its cytoplasmic domain with SAP (or SH2D1A), a small intracellular Src homology 2 (SH2) domain ... carries an arginine 55-to-leucine (R55L) mutation in the SAP protein. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC419855/?tool=pmcentrez
  • Molecular Dissection of 2B4 Signaling: Implications for ...
    ... 2B4 interacts through its cytoplasmic domain with SAP (or SH2D1A), a small ... an XLP patient carrying a SAP R55L mutation (which abolishes the ability of SAP ...
    mcb.asm.org/cgi/content/full/24/12/5144
  • Supplemental Information Optimal Germinal Center Responses ...
    ( A) WT and Sh2d1a. OT-II T cells transiently transfected with DNA constructs expressing GFP, ... GFP-SAP R78A, or GFP-SAP R55L. Cell lysates were analyzed by western ...
    download.cell.com/immunity/.../PIIS1074761310000403.mmc1.pdf
  • SH2D1Abase: X-linked lymphoproliferative syndrome (XLP ...
    ... disease-causing mutation of RefTitle SH2D1A in a family with X-linked lymphoproliferative ... Rapid detection of intracellular SH2D1A protein in RefTitle cytotoxic lymphocytes ...
    bioinf.uta.fi/SH2D1Abase/index_SH2.php?content=pub/IDbases

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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