CHRND S268F - GET-Evidence

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

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Curation:
Currentness:

CHRND S268F

(CHRND Ser268Phe)


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 (8 hits -- see all)
  • CHRND mutation causes a congenital myasthenic syndrome by ...
    CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the ... is reported for both the slow-channel mutation CHRND S268F and the ...
    brain.oxfordjournals.org/cgi/content/full/129/10/2784
  • CHRND mutation causes a congenital myasthenic syndrome by ...
    gene (CHRND) in a patient with sporadic congenital myasthenic syndrome (CMS) ... for both the slow-channel mutation CHRND S268F and. the homozygous fast-channel mutation ...
    brain.oxfordjournals.org/cgi/reprint/awl188v1.pdf
  • OMIM: 100720
    ... 8 of the CHRND gene, resulting in a ser268-to-phe (S268F) substitution in the twelfth residue of the delta ... In addition, the mutant CHRND protein showed abnormal association ...
    www.genome.jp/dbget-bin/www_bget?omim+100720
  • Table S2.
    Amino Acid change(s) C* M** 1. CHRNE. receptor deficiency. 70insG.† E26X. Yes. No. 2. CHAT ... CHRND. possible receptor deficiency. T706C.‡ C236R. Yes. Yes. 9. CHRND. slow channel. C803T.† S268F ...
    plosone.org/article/fetchSingleRepresentation.action?...
  • Myasthenic Syndromes
    δS268F mutation4. Widening of synaptic cleft. Accumulation of debris in synaptic cleft ... E381K (Heterozygous with null mutation)26. CHRND mutant protein: ...
    neuromuscular.wustl.edu/synmg.html
  • • review article •
    B) WT mouse and δS268F AChR single-channel currents recorded at low ... C) Kinetics of activation of WT and δS268F AChR at high ACh concentrations. ...
    prhsj.rcm.upr.edu/index.php/prhsj/article/viewFile/189/314
  • WUSTL - Sindromi miasteniche
    Delta subunità degli AChR (CHRND) l Cromosoma 2q33-q34. Tipi di mutazioni: Le mutazioni ... Sindrome dei canali lenti: δS268F; Dominante. Distruzione degli AChR clustering: E381K ...
    www.fonama.org/i_neuro.wustl.edu/i_synmg.html
  • Molekulargenetische Analyse von postsynaptischen
    CHRNB1, CHRND und CHRNE) [9] sowie für die embryonale ˻ -Untereinheit ... CHRND, CHRNA1, CHAT, DOK-7 oder COLQ (12,95% des Gesamtkollektivs) ...
    edoc.ub.uni-muenchen.de/9383/1/Hoellen_Friederike_S.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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