SH2D1A R32T - GET-Evidence

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

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(SH2D1A Arg32Thr)

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 (12 hits -- see all)
  • The X-linked lymphoproliferative syndrome gene product SH2D1A ...
    The GST-SH2D1A-R32T mutant was created by PCR and subcloned into pGEX-5X2. ... This SH2D1A effect is not mediated by the SH2D1A SH2 domain, because the SH2-R32T and ...
  • SH2 missense mutations
    A0014: Classical XLP A0015: Classical XLP A0016: Classical XLP ... R32T. A0013: Classical XLP. R55L. A0083: Classical XLP. S28R. A0050: Classical XLP. T53R. A0058: ...
  • 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. ... The R32T mutation appears in the invariant phosphotyrosine binding residue and ...
    Figure 4 - A ribbon model of the SH2 domain of SH2D1A (PDB code 1D1Z) ... the only known exception of SH2D1A (Lemmon and Ladbury, 1994; Hwang ...
  • Abnormal T Cell Receptor Signal Transduction of CD4 Th Cells ...
    These include R32T, C42W, T53I, E67D, and T68I (18, 68, 69, 70) ... Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially ...
  • Functional Requirements for Interactions Between CD84 and Src ...
    NTB-A, a novel SH2D1A-associated surface molecule contributing to the inability ... Missense mutations in SH2D1A identified in patients with X-linked ...
  • Type III 98%
    ... Effect Reference(s) for variant Reference(s) for phosphorylation site ... resistance, reduction of insulin-stimulated activity 10768093 SH2D1A O60880 R32T ...
  • Type III 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... reduction of insulin-stimulated activity 10768093 SH2D1A O60880 R32T 34 VAR_005612 RSK (0.818) IKK (0. ...
  • 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 ...
  • SAPbase
    ID R32T(1); standard; MUTATION; Accession A0011. Original code 4. Description missense ... RefTitle SH2D1A, In Five Patients with X-Linked Lymphoproliferative ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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