CHRND E59K - GET-Evidence

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

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Curation:
Currentness:

CHRND E59K

(CHRND Glu59Lys)


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
 

    GeneTests
  • GeneTests records for the CHRND gene
    CHRND-Related Congenital Myasthenic Syndrome
    CHRND-Related Multiple Pterygium Syndrome, Lethal Type
    Congenital Myasthenic Syndromes
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRND
    Web search results (10 hits -- see all)
  • CHRND mutation causes a congenital myasthenic syndrome by ...
    CHRND mutation causes a congenital myasthenic syndrome by impairing ... early infancy were only reported for the E59K fast-channel patient (Brownlow et al., 2001) ...
    brain.oxfordjournals.org/cgi/content/full/129/10/2784
  • OMIM: 100720
    In addition, the mutant CHRND protein showed abnormal association with the alpha ... The E59K allele was inherited from the mother and the 2-bp deletion ...
    www.genome.jp/dbget-bin/www_bget?omim+100720
  • CHRND mutation causes a congenital myasthenic syndrome by ...
    gene (CHRND) in a patient with sporadic congenital myasthenic syndrome (CMS) ... infancy were only reported for the E59K fast-channel patient ...
    brain.oxfordjournals.org/cgi/reprint/awl188v1.pdf
  • ARTICLE Acetylcholine Receptor Pathway Mutations Explain ...
    CHRND and show that they were lethal, whereas novel recessive missense mutations ... tion (d.E59K/d.756ins2) in a viable patient with inborn. contractures ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Myasthenic Syndromes
    δE59K mutation. Mutation effect: Reduced affinity of AChR for ACh. Location: Near ACh ... CHRND mutant protein: Reduced binding to rapsyn. Early onset: Feeding ...
    neuromuscular.wustl.edu/synmg.html
  • WUSTL - Sindromi miasteniche
    Mutazione δE59K. Effetto della mutazione: Ridotti affinità degli AChR per per la ACh ... CHRND proteina mutante: Ridotti legante to rapsyn. Insorgenza precoce: ...
    www.fonama.org/i_neuro.wustl.edu/i_synmg.html
  • Mutation causing congenital myasthenia reveals acetylcholine ...
    Thus, delta E59K causes dysfunction of fetal as well as the adult ... CHRND gene, we identified a novel point mutation in the long cytoplasmic loop, CHRND ...
    lib.bioinfo.pl/pmid:10562302
  • Congenital myasthenic syndrome caused by decreased agonist ...
    Thus, delta E59K causes dysfunction of fetal as well as the adult ... CHRND gene, we identified a novel point mutation in the long cytoplasmic loop, CHRND ...
    lib.bioinfo.pl/pmid:8755487

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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