CYP4F22 R243H - GET-Evidence

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

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CYP4F22 R243H

(CYP4F22 Arg243His)


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Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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
 

    GeneTests
  • GeneTests records for the CYP4F22 gene
    Autosomal Recessive Congenital Ichthyosis
    CYP4F22-Related Autosomal Recessive Congenital Ichthyosis
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP4F22
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (3 hits -- see all)
  • Mutations in a new cytochrome P450 gene in lamellar ...
    (F59L) in exon 1 (F5); 728G!A (R243H) in exon 6 (F4); 1114C!T (R372W) in exon 8 (F7) ... named CYP4F22 by D.R. Nelson, and is described in refer- ence 35. This name has not been ...
    hmg.oxfordjournals.org/cgi/reprint/15/5/767.pdf
  • Mutations in a new cytochrome P450 gene in lamellar ...
    Human Molecular Genetics Advance Access originally published online on January ... same as a gene which has been named CYP4F22 by D.R. Nelson, and is described in ...
    hmg.oxfordjournals.org/cgi/content/full/15/5/767
  • OMIM: 611495
    CYP4F22 is evolutionarily conserved, displays 86% protein homology with rodent ... the CYP4F22 gene, resulting in an arg243-to-his (R243H) substitution ...
    www.genome.jp/dbget-bin/www_bget?omim+611495

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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