CHRND I58K - GET-Evidence

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

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Curation:
Currentness:

CHRND I58K

(CHRND Ile58Lys)


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 (5 hits -- see all)
  • CHRND mutation causes a congenital myasthenic syndrome by ...
    CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the ... Two other mutations of CHRND reduce [I58K; (Shen et al., 2003)] or ...
    brain.oxfordjournals.org/cgi/content/full/129/10/2784
  • OMIM: 100720
    In addition, the mutant CHRND protein showed abnormal association with the alpha ... the CHRND gene: leu42-to-pro (L42P) and ile58-to-lys (I58K; 100720. ...
    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) ... Two other mutations of CHRND reduce [I58K; (Shen. et al., 2003)] or ...
    brain.oxfordjournals.org/cgi/reprint/awl188v1.pdf
  • Journal of Clinical Investigation -- Congenital myasthenia ...
    We find that δI58K prevents expression of the AChR on the cell surface, whereas ... δI58K AChR, indicating δV93L did not mitigate the effects of δI58K (Figure 5 A) ...
    www.jci.org/articles/view/34527
  • Congenital myasthenia–related AChR δ subunit mutation ...
    We find that δI58K prevents expression of the AChR on the cell surface, whereas ... mutant δI58K+V93L AChR was similar to that of the δI58K AChR, indicating δ ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2289798

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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