PEX7 G217R - GET-Evidence

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

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Curation:
Currentness:

PEX7 G217R

(PEX7 Gly217Arg)


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 @ chr6:137191043: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.994 (probably damaging)
    Web search results (48 hits -- see all)
  • Medline ® Abstract for Reference of 'Peroxisomal disorders'
    PEX7, a candidate gene for RCDP identified in yeast, encodes the ... A third mutation, G217R, whose functional significance is yet to be determined, was ...
    uptodate.com/patients/content/abstract.do?...&refNum=51
  • Human PEX7 encodes the peroxisomal PTS2 receptor and is ...
    PEX7, a candidate gene for RCDP identified in yeast, encodes the ... A third mutation, G217R, whose functional significance is yet to be determined, was ...
    www.medscape.com/medline/abstract/9090381
  • Nature Genetics
    PEX7, a candidate gene for RCDP identified in yeast, encodes the receptor for ... A third mutation, G217R, whose functional significance is yet to be determined, ...
    www.nature.com/ng/wilma/v15n4.861211430.html
  • Mendelian Inheritance in Man Document Reader
    To relate PEX7 genotype and phenotype, they evaluated the consequence of the disease ... PEX7, GLY217ARG In the PEX7 gene, Braverman et al. (1997) found a gly217-to-arg (G217R) ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+601757
  • Rhizomelic Chondrodysplasia Punctata Type 1 -- GeneReviews ...
    PEX7, which encodes the receptor for a subset of peroxisomal matrix ... PEX7, which encodes the receptor for a subset of peroxisomal matrix enzymes, is ...
    www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rcdp
  • Mutational Spectrum in the PEX7 Gene and Functional Analysis ...
    Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 ... The PEX7 alleles encoding the amino acid substitutions G217R (649GA) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC384941
  • Mutational Spectrum in the PEX7 Gene and Functional Analysis ...
    RCDP have mutations in the PEX7 gene encoding peroxin 7, the cytosolic PTS2-receptor ... (2000)—the G217R mutation, with a frequency of. 7%—was observed in ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • DNA BASED MUTATION ANALYSIS FOR X
    PEX7 encodes the receptor for a subset of peroxisomal matrix proteins. ... Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles ...
    www.genetics.kennedykrieger.org/PeroxisomalFormInfo.htm
  • Chondrodysplasia Punctata, Rhizomelic :: genetics
    ... Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. Human PEX7 encodes ... A third mutation, G217R, whose functional significance is yet to be determined, was ...
    lib.bioinfo.pl/meid:41659
  • A Mobile PTS2 Receptor for Peroxisomal Protein Import in ...
    The pex7 mutant was not impaired for growth on methanol, indicating that there ... In contrast, pex7 cells failed to grow on oleate, but growth on oleate could be ...
    jcb.rupress.org/cgi/content/full/140/4/807

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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