SH2D1A P101L - GET-Evidence

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

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Curation:
Currentness:

SH2D1A P101L

(SH2D1A Pro101Leu)


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 (18 hits -- see all)
  • The X-linked lymphoproliferative syndrome gene product SH2D1A ...
    An SH2D1A SH2 domain mutant that has been identified in XLP does not ... the SH2D1A SH2 domain, because the SH2-R32T and P101L mutants of SH2D1A also ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC16569
  • Characterization of SH2D1A missense mutations identified in ...
    Characteristically, the SH2D1A three-pronged interaction with Tyr(281) ... protein half-life (e.g. Y7C, S28R, Q99P, P101L, V102G, and X129R) and (ii) mutants with ...
    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
  • 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
  • A 'three-pronged' binding mechanism for the SAP/SH2D1A SH2 ...
    In line with this possibility, SAP/SH2D1A was found to bind to the ... Mutants Y7C, S28R, Q99P, P101L, V102G and Tail do not involve residues at the peptide ...
    www.nature.com/emboj/journal/v21/n3/full/7594252a.html
  • The BioGRID | PUBLICATION VIEW
    Characterization of SH2D1A missense mutations identified in X-linked ... Here we analyze the effect of SH2D1A protein missense mutations identified in 10 ...
    www.thebiogrid.org/ViewPublication/8793
  • SH2 missense mutations
    A0014: Classical XLP A0015: Classical XLP A0016: Classical XLP ... P101L. A0018: Classical XLP. Q99P. A0070: Classical XLP. R32T. A0013: Classical XLP. R55L. A0083: ...
    bioinf.uta.fi/SH2base/SH2D1A.html
  • Missense mutations in SH2D1A identified in patients with ...
    Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative ... Indeed, the affinity of P101L SAP for SLAM was reduced <2-fold, ...
    intimm.oxfordjournals.org/cgi/content/full/18/7/1055
  • biotec.icb.ufmg.br
    ... 1 4 5 P3 3-kinases 1 4 5 P3 receptor 1 4 5 P3 receptors 1 4-addition 1 4 ... procollagen 1 V pro- alpha 2 1 alpha 1 beta 2 gamma 2S 1 collagen 1 complexes 1 ...
    biotec.icb.ufmg.br/procon/prot_dictionary.txt
  • PubMed: 11477068
    Here we analyze the effect of SH2D1A protein missense mutations identified in 10 ... Surprisingly, a mutation in SH2D1A able to interfere with Thr -2 of ...
    www.genome.jp/dbget-bin/www_bget?pubmed+11477068

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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