PEX7 A218V - GET-Evidence

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

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Curation:
Currentness:

PEX7 A218V

(PEX7 Ala218Val)


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

  • T @ chr6:137191047: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.005 (benign)
    Web search results (50 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    A PEX7 mutation (leu292 to ter) cosegregated with the disease, and expression of PEX7 in ... (A218V) amino acid substitution in PEX7 in 3 probands with RCDP ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+601757
  • Mutational Spectrum in the PEX7 Gene and Functional Analysis ...
    RCDP have mutations in the PEX7 gene encoding peroxin 7, the cytosolic PTS2-receptor ... lowed by the A218V missense mutation. In our cohort, the frequencies ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Mutational Spectrum in the PEX7 Gene and Functional Analysis ...
    Mutational Spectrum in the PEX7 Gene and Functional Analysis of ... The PEX7 alleles encoding the amino acid substitutions G217R (649GA), A218V (653CT) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC384941
  • Medline ┬« Abstract for Reference of 'Peroxisomal disorders'
    PEX7, a candidate gene for RCDP identified in yeast, encodes the ... a severe phenotype; the second, A218V, was present in three probands, including two with a milder phenotype. ...
    uptodate.com/patients/content/abstract.do?...&refNum=51
  • Human PEX7 encodes the peroxisomal PTS2 receptor and is ...
    Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible ... a severe phenotype; the second, A218V, was present in three probands, including two with ...
    www.medscape.com/medline/abstract/9090381
  • Nature Genetics
    Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for ... We conclude that PEX7 is responsible for RCDP (PBD CG11) and suggest a founder ...
    www.nature.com/ng/wilma/v15n4.861211430.html
  • 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
  • Chromosomes, Human, Pair 6 :: genetics
    ... and Waldenstr├Âm macroglobulinemia] Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. ...
    lib.bioinfo.pl/meid:3030
  • 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
    ... migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. Human PEX7 encodes the peroxisomal ...
    lib.bioinfo.pl/meid:41659

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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