RFT1 R67C - GET-Evidence

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

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Curation:
Currentness:

RFT1 R67C

(RFT1 Arg67Cys)


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

  • A @ chr3:53157807: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (20 hits -- see all)
  • ARTICLE Human RFT1 Deficiency Leads to a Disorder of N-Linked ...
    The c.199C/T mutation introduced the amino acid substitution p.R67C. ... The causality of the RFT1 p.R67C mutation was further established by restoration of normal glycosylation ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Human RFT1 deficiency leads to a disorder of N-linked ...
    Human RFT1 deficiency leads to a disorder of N-linked glycosylation. ... The causality of the RFT1 p.R67C mutation was further established by restoration ...
    ncbi.nlm.nih.gov/pubmed/18313027?ordinalpos=2&...
  • BiomedExperts: Human RFT1 deficiency leads to a disorder of ...
    Human RFT1 deficiency leads to a disorder of N-linked glycosylation. ... The causality of the RFT1 p.R67C mutation was further established by restoration ...
    biomedexperts.com/Abstract.bme/18313027/...
  • AJHG - Identification and Functional Analysis of a Defect in ...
    Human RFT1 Deficiency Leads to a Disorder of N-Linked Glycosylation ... The causality of the RFT1 p.R67C mutation was further established by restoration ...
    www.cell.com/AJHG/abstract/S0002-9297(07)62004-7
  • PubMed: 18313027
    The human RFT1 protein shares 22% identity with its yeast ortholog, which is ... The causality of the RFT1 p.R67C mutation was further established by restoration ...
    www.genome.jp/dbget-bin/www_bget?pubmed:18313027
  • Hennet T - Institute of Physiology, University of Zürich ...
    Hennet T: Institute of Physiology, University of Zürich, Zürich, Switzerland. ... Remarkably, all six patients with RFT1-CDG show sensorineural deafness as part of a ...
    pubget.com/profile/author/Hennet T
  • University of Zurich
    The causality of the RFT1 p.R67C mutation was further established by restoration ... led to the amino acid substitution R67C in the human RFT1 protein homolog. ...
    www.zora.uzh.ch/6343/2/6343_RFT1_manuscript_AJHGV.pdf
  • Human Genetics - Research from University of Zurich in human ...
    The c.199C -> T mutation introduced the amino acid substitution p.R67C. ... The causality of the RFT1 p.R67C mutation was further established by ...
    www.newsrx.com/article.php?articleID=961228
  • Winchester, B (Bryan)
    The human RFT1 in protein shares 22% identity with its yeast ortholog, which is ... The causality of the RFT1 p.R67C mutation was further established by ...
    lib.bioinfo.pl/auid:1612094
  • 論文詳細:Human RFT1 deficiency leads to a disorder of N-lin ...
    論文:Human RFT1 deficiency leads to a disorder of N-lin...[American journal of human ... The causality of the RFT1 p.R67C mutation was further established by restoration ...
    www.atgcchecker.com/pubmed/18313027

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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