CHRND L42P - GET-Evidence

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

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Curation:
Currentness:

CHRND L42P

(CHRND Leu42Pro)


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
    PolyPhen-2
  • Score: 0.946 (probably damaging)
    Web search results (9 hits -- see all)
  • OMIM: 100720
    In addition, the mutant CHRND protein showed abnormal association with the alpha ... 2 mutations in the CHRND gene: leu42-to-pro (L42P) and ile58-to-lys ...
    www.genome.jp/dbget-bin/www_bget?omim+100720
  • CHRND mutation causes a congenital myasthenic syndrome by ...
    CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the ... E59K (Brownlow et al., 2001) and L42P (Shen et al., 2003) have been ...
    brain.oxfordjournals.org/cgi/content/full/129/10/2784
  • Journal of Clinical Investigation -- Congenital myasthenia ...
    We show that the principal effect of δL42P is to reduce the rate of opening of ... subunit gene CHRND: 125TC, predicting a Leu to Pro mutation at codon 42 (δL42P) in the β ...
    www.jci.org/articles/view/34527
  • Myasthenic Syndromes
    δ subunit mutation (L42P): Fast channel (Short open times); Increased affinity for ACh ... CHRND mutant protein: Reduced binding to rapsyn. Early onset: Feeding ...
    neuromuscular.wustl.edu/synmg.html
  • CHRND mutation causes a congenital myasthenic syndrome by ...
    gene (CHRND) in a patient with sporadic congenital myasthenic ... 2002), E59K (Brownlow et al., 2001) and L42P (Shen et al., 2003) have been characterized ...
    brain.oxfordjournals.org/cgi/reprint/awl188v1.pdf
  • WUSTL - Sindromi miasteniche
    δ Subunità mutazione (L42P): Veloce canale (Breve tempi di apertura); Aumentato affinità ... CHRND proteina mutante: Ridotti legante to rapsyn. Insorgenza precoce: Difficoltà ad ...
    www.fonama.org/i_neuro.wustl.edu/i_synmg.html
  • Congenital myasthenia–related AChR δ subunit mutation ...
    We show that the principal effect of δL42P is to reduce the rate of opening of ... subunit gene CHRND: 125TC, predicting a Leu to Pro mutation at codon 42 (δL42P) in the β ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2289798
  • CHAPTER 3
    L42P. 1. NO. Not annotated. LHR. Luteinizing Hormone Receptor. ENSRNOG00000016712 BN. T37228C ... subunit (CHRND), protein O-mannosyl transferase (POMT1), and neuropeptide Y receptor ...
    igitur-archive.library.uu.nl/dissertations/.../c3.pdf
  • Generation of gene knockouts and mutant models in the ...
    L42P. 1. NO. Not annotated. LHR. Luteinizing Hormone Receptor. ENSRNOG00000016712. BN. T37228C ... (CHRND), protein O-mannosyl transferase (POMT1), and neuropeptide Y ...
    hubrecht.eu/research/cuppen/publications/27 ratKO2006.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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