SH2D1A R55L - GET-Evidence

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

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(SH2D1A Arg55Leu)

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

  • GeneTests records for the SH2D1A gene
    Lymphoproliferative Disease, X-Linked
    SH2D1A-Related Lymphoproliferative Disease, X-Linked
  • 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 ...
  • 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: ...
  • 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. ...
  • 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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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