KRT86 E413K - GET-Evidence

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

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KRT86 E413K

(KRT86 Glu413Lys)

Short summary


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


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • Monilethrix
  • 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 ...
  • 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 ...
  • 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.
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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