SH2D1A M1I - GET-Evidence

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

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Curation:
Currentness:

SH2D1A M1I

(SH2D1A Met1Ile)


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: 0.998 (probably damaging)
    Web search results (6 hits -- see all)
  • SH2 missense mutations
    A0014: Classical XLP A0015: Classical XLP A0016: Classical XLP ... M1I. A0045: Classical XLP. P101L. A0018: Classical XLP. Q99P. A0070: Classical XLP. R32T. A0013: ...
    bioinf.uta.fi/SH2base/SH2D1A.html
  • Analysis of SH2D1A mutations in patients with severe Epstein ...
    Mutations or deletions in the SH2D1A (src. homology 2 domain protein ... presence of SH2D1A gene alterations who presented. with fatal or nonfatal, yet unusually ...
    poliambulanza.it/data/.../PUBBLICAZIONI/Ann Hematol 2002.pdf
  • SH2D1Abase: X-linked lymphoproliferative syndrome (XLP ...
    ... reference in every entry // ID M1I(1); standard; MUTATION; Accession A0045 Original code A Description ... disease-causing mutation of RefTitle SH2D1A in a family with X-linked ...
    bioinf.uta.fi/SH2D1Abase/index_SH2.php?content=pub/IDbases
  • Rna Containing Modified Nucleosides And Methods Of Use Thereof
    This invention provides RNA, oligoribonucleotide, and polyribonucleotide molecules comprising pseudouridine or a modified nucleoside, gene therapy vectors comprising ...
    www.freshpatents.com/-dt20091119ptan20090286852.php

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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