SH2D1A R32T - 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:

SH2D1A R32T

(SH2D1A Arg32Thr)


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 (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 ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC16569
  • 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: ...
    bioinf.uta.fi/SH2base/SH2D1A.html
  • 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 ...
    www.bioinfo.de/isb/2009/09/0025
  • HUMAN PATHOGENIC MUTATIONS IN PROTEIN DOMAINS
    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 ...
    ethesis.helsinki.fi/julkaisut/.../lappalainen/humanpat.pdf
  • 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 ...
    www.jimmunol.org/cgi/content/full/167/5/2657
  • 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 ...
    www.jimmunol.org/cgi/content/full/171/5/2485
  • Type III 98%
    ... Effect Reference(s) for variant Reference(s) for phosphorylation site ... resistance, reduction of insulin-stimulated activity 10768093 SH2D1A O60880 R32T ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_98.txt
  • 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. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt
  • 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
  • SAPbase
    ID R32T(1); standard; MUTATION; Accession A0011. Original code 4. Description missense ... RefTitle SH2D1A, In Five Patients with X-Linked Lymphoproliferative ...
    protein.uta.fi/SAPbase/SAPbase.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in