EXOSC3 Y225H - GET-Evidence

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

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Curation:
Currentness:

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EXOSC3 Y225H

(EXOSC3 Tyr225His)


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Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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

  • G @ chr9:37780831: 6.9% (747/10758) in EVS
  • G @ chr9:37770830: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 6.9% (747/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.923 (probably damaging)
    Web search results (4 hits -- see all)
  • EXOSC3 Gene - GeneCards | EXOS3 Protein | EXOS3 Antibody
    EXOSC3 Gene in genomic location: bands according to Ensembl, locations according ... Abnova (EXOSC3) OriGene Purified Recombinant Human Protein: EXOSC3 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=EXOSC3
  • RCSB PDB : Biology and Chemistry Report for 2NN6 - Structure ...
    2NN6: Reconstitution, activities, and structure of the eukaryotic RNA exosome. ... exosc3, rrp40. Host Scientific Name. Escherichia coli. Host Genus. Escherichia. Host Strain ...
    pdb.org/pdb/explore/biologyAndChemistry.do?structureId=2NN6
  • UniProt: Q9NQT5
    AC Q9NQT5; Q9Y3A8; DT 01-JUN-2001, integrated into UniProtKB/Swiss-Prot. ... CC composed of at least 11 proteins: EXOSC1/CSL4, EXOSC2/RRP4, CC EXOSC3/RRP40, ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q9NQT5

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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