KRT10 R156H - GET-Evidence

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

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Curation:
Currentness:

KRT10 R156H

(KRT10 Arg156His)


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
 

    PolyPhen-2
  • Score: 0.986 (probably damaging)
    Web search results (27 hits -- see all)
  • WikiGenes - KRT10 - keratin 10
    The world's first wiki where authorship really matters. Due credit ... Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma. ...
    www.wikigenes.org/e/gene/e/3858.html
  • BioPortfolio - KRT10 - keratin 10 (epidermolytic ...
    KRT10 - keratin 10 (epidermolytic hyperkeratosis; keratosis palmaris et plantaris) - Bioportfolio
    www.bioportfolio.com/gene/3858-KRT10.html
  • IngentaConnect Table Of Contents: Journal of the European ...
    Journal of the European Academy of Dermatology & Venereology ... Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ...
    ingentaconnect.com/content/bsc/jdv/2000/00000014/00000004
  • OMIM: 148080
    The KRT10 polymorphism arose from the insertion/deletion of imperfect (CCG)n ... had identified an R156H mutation in the KRT10 gene, Paller et al. ...
    www.genome.jp/dbget-bin/www_bget?omim+148080
  • Mendelian Inheritance in Man Document Reader
    Romano et al. (1991) demonstrated that the KRT10, KRT13, and KRT15 genes are located in ... The KRT10 polymorphism arose from the insertion/deletion of imperfect (CCG)n repeats ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+148080
  • Human Intermediate Filament Database
    Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma. ... New KRT10 gene mutation underlying the annular variant of bullous ...
    interfil.org/browse_biblio.php?disease_desc=Bullous eryth...
  • 【共同研究・研修部門】 業績 順天堂大学大学院医学研究科
    Leptin facilitates proliferation of hepatic stellate cells through up-regulation ... Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ...
    juntendo.ac.jp/graduate/laboratory/labo/.../k6.html
  • DAVID: Database for Annotation, Visualization, and Integrated ...
    disease:Defects in KRT10 are a cause of epidermal nevus epidermolytic hyperkeratotic type [MIM:600648] ... i.e. R156S, R156P, R156H were found in epidermolytic hyperkeratosis. ...
    david.abcc.ncifcrf.gov/geneReportFull.jsp?rowids=3024681
  • Hideoki Ogawa - research profile on BiomedExperts
    Hideoki Ogawa - research profile on BiomedExperts:Mice, Skin, Keratinocytes, Cultured Cells, Molecular Sequence Data, Atopic Dermatitis.
    www.biomedexperts.com/Profile.bme/1040651/Hideoki_Ogawa
  • BioPortfolio - KRT10
    KRT10 keratin 10 (epidermolytic hyperkeratosis; keratosis palmaris et plantaris) ... Recurrent R156H mutation of KRT10 in a Japanese family with ... Recently, mutations of ...
    www.bioportfolio.com/search/KRT10.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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