PEX7 R232X - GET-Evidence

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

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Curation:
Currentness:

PEX7 R232X

(PEX7 Arg232Stop)


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 (5 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    A PEX7 mutation (leu292 to ter) cosegregated with the disease, and expression of PEX7 in RCDP fibroblasts ... an arg232-to-ter (R232X) mutation in the PEX7 gene, which had been ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+601757
  • Mutational Spectrum in the PEX7 Gene and Functional Analysis ...
    We report the mutational spectrum in the PEX7 gene of 78 patients ... with PEX7 allele activity: expression of eight different alleles from patients ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • PEX1 MUTATIONS IN AUSTRALASIAN PATIENTS WITH DISORDERS OF ...
    debate over the subcellular localisation of PEX7, with some researchers ... view that PEX7 is also a cycling receptor. A number of studies have ...
    gu.edu.au:8080/adt-root/uploads/approved/.../02Whole.pdf
  • OMIM: 601757
    A PEX7 mutation (leu292 to ter) cosegregated with the disease, and expression of PEX7 in RCDP fibroblasts ... an arg232-to-ter (R232X) mutation in the PEX7 gene, which had been ...
    www.genome.jp/dbget-bin/www_bget?omim+601757

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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