KRT86 E402K - 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 E402K

(KRT86 Glu402Lys)


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

  • A @ chr12:52700021: 0.0% (1/10750) in EVS
  • Frequency shown in summary reports: 0.0% (1/10750)

Publications
 

Genomes
 

Other external references
 

    OMIM
  • Monilethrix
    www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601928
    PolyPhen-2
  • Score: 0.998 (probably damaging)
    Web search results (6 hits -- see all)
  • Monilethrix: eMedicine Dermatology
    Overview: Monilethrix is an autosomal dominant disorder characterized by a beaded ... members, the mutation (E402K) in exon 7 of the KRT86 gene was identified as etiologic.5 ...
    emedicine.medscape.com/article/1118500-overview
  • OMIM: 158000
    Genetic analysis identified a heterozygous mutation in the KRT86 gene (601928.0006) ... KRTHB6 gene revealed heterozygosity for the E402K mutation (601928.0003) in all affected ...
    www.genome.jp/dbget-bin/www_bget?omim+158000
  • OMIM: 601928
    0003 MONILETHRIX KRT86, GLU402LYS In a patient with monilethrix (158000), Winter ... identified heterozygosity for the E402K mutation in the KRT86 gene. ...
    www.genome.jp/dbget-bin/www_bget?mim:601928
  • Unbound MEDLINE | Pitfalls of mapping a large Turkish ...
    In the results of this, autosomal dominant mutation (E402K) in exon 7 of KRT86 gene was identified as a cause of Moniltherix in the large family from Turkey. ...
    unboundmedicine.com/medline/ebm/record/19400537/abstract/...
  • Clinical features and linkage analysis of a family with ...
    Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. ... results family of this, autosomal dominant mutation (E402K) in exon 7 of KRT86 ...
    lib.bioinfo.pl/pmid:8479711
  • A mutation in myotilin causes spheroid body myopathy.
    In the results of this, autosomal dominant mutation (E402K) in exon 7 of KRT86 gene was identified as a cause of Moniltherix in the large family from Turkey. ...
    lib.bioinfo.pl/pmid:16380616

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in