PUS1 E220X - GET-Evidence

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

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Curation:
Currentness:

PUS1 E220X

(PUS1 Glu220Stop)


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
 

    Web search results (11 hits -- see all)
  • Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two ...
    Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis ... A novel, homozygous stop mutation was present in PUS1 (E220X) ...
    www.ncbi.nlm.nih.gov/pubmed/17056637
  • Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two ...
    Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis ... A novel, homozygous stop mutation was present in PUS1 (E220X) ...
    jmg.bmj.com/content/44/3/173.abstract
  • OMIM 600462 - Miopatia mitocondriale più anemia ...
    ... per una mutazione nonsenso nel gene PUS1 (E220X; 608109.0002). La presentazione ematologica e neurologica ... la pseudouridina sintetasi 1 (PUS1) è associata con la perdita di ...
    www.fonama.org/i_omim/mito6/i_600462.html
  • OMIM 608109 - Pseudouridina sintetasi 1; PUS1
    PUS1 converte uridina dentro pseudouridina dopo the nucleotide è stato incorporato dentro ... PUS1, provocante una glu220-to-ter (E220X) sostituzione nel PUS1-1 ...
    www.fonama.org/i_omim/mito6/i_608109.html
  • Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two ...
    Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis ... A novel, homozygous stop mutation was present in PUS1 (E220X) ...
    tripdatabase.com/doc/446193-Nonsense-mutation-in-pseudour...
  • Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two ...
    Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis ... A novel, homozygous stop mutation was present in PUS1 (E220X) ...
    www.medscape.com/medline/abstract/17056637
  • Myopathy with lactic acidosis and sideroblastic anemia / Research
    Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis ... A novel, homozygous stop mutation was present in PUS1 (E220X) ...
    checkorphan.getreelhealth.com/research/view/.../page/3
  • Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two ...
    A novel, homozygous stop mutation was present in PUS1 (E220X) ... CONCLUSIONS: The stop mutation in PUS1 is likely to determine the loss of function of the ...
    www.biowizard.com/pmabstract.php?pmid=17056637
  • Tiranti, V (Valeria)
    The six exons of the PUS1 gene were analyzed by automated sequencing. ... stop mutation was present in PUS1 (E220X),. We have investigated the structural and ...
    lib.bioinfo.pl/auid:1743104
  • EC 5.4.99.12 - tRNA-pseudouridine synthase I
    Information on EC 5.4.99.12 - tRNA-pseudouridine synthase I ... pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. ...
    www.brenda-enzymes.info/php/result_flat.php3?ecno=5.4.99.12

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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