COQ2 Y297C - GET-Evidence

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

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Curation:
Currentness:

COQ2 Y297C

(COQ2 Tyr297Cys)


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
 

    Web search results (7 hits -- see all)
  • Mutations in coenzyme Q10 biosynthetic genes
    The patients with mutations in COQ2 had in common early-onset nephrosis and ... similarities between the family with the Y297C mutation in COQ2 (5) and that ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1804338
  • Journal of Clinical Investigation -- Mutations in coenzyme ...
    The patients with mutations in COQ2 had in common early-onset nephrosis and ... similarities between the family with the Y297C mutation in COQ2 (5) and that ...
    www.jci.org/articles/view/31423
  • Human Coenzyme Q
    mutation (Y297C) in the COQ2 gene, which encodes. para-hydroxybenzoate (PHB) polyprenyl ... ate-Polyprenyl Transferase (COQ2) Causes Primary Coen- zyme Q10 ...
    solacenutrition.com/pdfs/.../Coenzyme-10-Def.pdf
  • OMIM: 609825
    RNA dot blot analysis detected COQ2 in all adult and fetal tissues ... (Y297C; 609825.0001) in the third of six predicted transmembrane domains of the COQ2 ...
    www.genome.jp/dbget-bin/www_bget?omim+609825
  • Respiratory chain dysfunction and oxidative stress correlate ...
    In contrast, COQ2 mutant fibroblasts have 30% CoQ10 with partial defect in ATP ... homozygous COQ2 mutation (Y297C) (10 , 19) , and 5 controls, were grown in ...
    www.fasebj.org/cgi/content/full/22/6/1874
  • OMIM 607426 - Carenza di coenzima Q10
    ... con COQ10 carenza dovuta a mutazione in COQ2 che manifestavano come fatale ... to cisteina a aminoacidi 297 (Y297C) all'interno a preannunciava dominio transmembranico. ...
    www.fonama.org/i_omim/mito6/i_607426.html
  • OMIM: 607426
    ... at amino acid 297 (Y297C) within a predicted transmembrane domain. ... a homozygous 1-bp deletion in exon 7 of the COQ2 gene (609825.0002), resulting in a premature stop codon. ...
    www.genome.jp/dbget-bin/www_bget?mim:607426

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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