KRT86 A118E - 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.

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Curation:
Currentness:

KRT86 A118E

(KRT86 Ala118Glu)


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: 0.997 (probably damaging)
    Web search results (4 hits -- see all)
  • OMIM: 158000
    Genetic analysis identified a heterozygous mutation in the KRT86 gene (601928.0006) ... A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing ...
    www.genome.jp/dbget-bin/www_bget?omim+158000
  • Monilethrix: eMedicine Dermatology
    Overview: Monilethrix is an autosomal dominant disorder characterized by a beaded ... MA, Schweizer J. A novel missense mutation, A118E, in the helix initiation motif of the ...
    emedicine.medscape.com/article/1118500-overview
  • OMIM: 601928
    0006 MONILETHRIX KRT86, ALA118GLU In affected members of a 3 ... in exon 1 of the KRT86 gene, resulting in an ala118-to-glu (A118E) substitution in the helix initiation motif. ...
    www.genome.jp/dbget-bin/www_bget?mim:601928
  • Characterization of a 190-kilobase pair domain of human type ...
    A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, ... 23 (Krt83), and 26 (Krt86) genes encoding basic hair keratins were ...
    lib.bioinfo.pl/pmid:9756910

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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