KRT86 E413K - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

KRT86 E413K

(KRT86 Glu413Lys)


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
 

    OMIM
  • Monilethrix
    www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601928
    PolyPhen-2
  • Score: 0.837 (possibly damaging)
    Web search results (4 hits -- see all)
  • Monilethrix: eMedicine Dermatology
    Overview: Monilethrix is an autosomal dominant disorder characterized by a beaded ... R, Tsuboi R, Ikeda S, Ogawa H. Recurrent E413K mutation of hHb6 in a Japanese family with ...
    emedicine.medscape.com/article/1118500-overview
  • OMIM: 158000
    Genetic analysis identified a heterozygous mutation in the KRT86 gene (601928.0006) ... the HB6 E413D mutation, the HB1 E413K mutation (602153.0001), or the HB1 E402K mutation ...
    www.genome.jp/dbget-bin/www_bget?omim+158000
  • WikiGenes - KRT86 - keratin 86
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/3892.html
  • OMIM: 601928
    Presence of both the E413K mutation and variation in the KRTHB1 gene ... 0006 MONILETHRIX KRT86, ALA118GLU In affected members of a 3-generation French family with monilethrix ...
    www.genome.jp/dbget-bin/www_bget?mim:601928

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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