PUS1 R116W - GET-Evidence

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

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Curation:
Currentness:

PUS1 R116W

(PUS1 Arg116Trp)


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 (17 hits -- see all)
  • OMIM 608109 - Pseudouridina sintetasi 1; PUS1
    PUS1 converte uridina dentro pseudouridina dopo the nucleotide è stato ... (R116W) mutazione provocante da un 656C-T transizione nell'esone 3 del gene PUS1 come ...
    www.fonama.org/i_omim/mito6/i_608109.html
  • Pleiotropic effects and compensation mechanisms determine ...
    Pleiotropic effects and compensation mechanisms determine tissue ... mutation C656T (R116W) in the catalytic domain of the pseudouridylate synthase 1 (PUS1) gene, which leads ...
    www.ncbi.nlm.nih.gov/pubmed/17374500
  • doi:10.1086/421530
    PUS1 is widely expressed, and quantitative expression. analysis of RNAs from liver, brain, ... nonconservative amino acid change (R116W) and con- stitutes a novel ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes ...
    PUS1 is widely expressed, and quantitative expression analysis of ... in a nonconservative amino acid change (R116W) and constitutes a novel change not present ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1182096
  • OMIM 600462 - Miopatia mitocondriale più anemia ...
    ... MLASA con la mutazione R116W, dei loro genitori, dei fratelli e ... da PUS1, mentre i tRNA dei controlli, dei fratelli e sorelle non colpiti, o dei genitori avevano tutti una ...
    www.fonama.org/i_omim/mito6/i_600462.html
  • Anemia Cell Biology - New anemia cell biology research from ...
    NewsRx is the leading source of news and information on Anemia Cell Biology ... C656T (R116W) in the catalytic domain of the pseudouridylate synthase 1 (PUS1) gene, ...
    newsrx.com/newsletters/Blood-Weekly/.../80712200748BW.html
  • BiomedExperts: Pleiotropic effects and compensation ...
    'Pleiotropic effects and compensation mechanisms determine tissue specificity in ... C656T (R116W) in the catalytic domain of the pseudouridylate synthase 1 (PUS1) gene, ...
    biomedexperts.com/Abstract.bme/17374500/...
  • Pleiotropic effects and compensation mechanisms determine ...
    Pleiotropic effects and compensation mechanisms determine tissue ... C656T (R116W) in the catalytic domain of the pseudouridylate synthase 1 (PUS1) gene, ...
    molecularstation.com/research/pleiotropic-effects-and-com...
  • Pleiotropic gevolgen en de compensatiemechanismen bepalen ...
    De Artikelen van de Wetenschap van de referentie. Recent Nieuws. De ... C656T (R116W) op het katalytische gebied van pseudouridylatesynthase 1 (PUS1) gen, dat ...
    molecularstation.com/nl/research/pleiotropic-effects-and-...
  • EC 5.4.99.12 - tRNA-pseudouridine synthase I
    transcript variants PUS1-1 and PUS1-3, DNA and amino acid sequence ... mutation C656T (R116W) in the catalytic domain of the pseudouridylate synthase 1 (PUS1) gene, which leads ...
    www.brenda-enzymes.info/php/result_flat.php3?ecno=5.4.99.12

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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