HLCS G581S - GET-Evidence

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

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Curation:
Currentness:

HLCS G581S

(HLCS Gly581Ser)


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
 

    PolyPhen-2
  • Score: 0.998 (probably damaging)
    Web search results (9 hits -- see all)
  • BioPortfolio - HLCS - holocarboxylase synthetase (biotin ...
    HLCS - holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) - Bioportfolio
    www.bioportfolio.com/gene/3141-HLCS.html
  • OMIM: 609018
    0003 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HLCS, ASP571ASN In a patient with ... A transition in the HLCS gene, resulting in a gly581-to-ser (G581S) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+609018
  • Reduced half-life of holocarboxylase synthetase from patients ...
    the HLCS deficiency was further investigated by characterisation of the p.L216R protein. ... biotin responsive HLCS mutant c.1741G>A p.G581S tested in the ...
    www.sc.mahidol.ac.th/scbc/bc_internet/publication/918.pdf
  • ESHG Posters 13
    Determination of HLCS genomic structure and mutation identification in four patients with HLCS deficiency ... The known G581S mutation was reconfirmed with new intronic primers ...
    www.medacad.org/eshg/abstracts/posters13.htm
  • ホロカルボキシラーゼ合成酵素欠損症
    ホロカルボキシラーゼ合成酵素 holocarboxylase synthetase (HLCS)(遺伝子座 21p22.1) ... p.V550M、p.G581S、p.D571N、 p.R565X などが民族を超えて検出される。 p.R508W は日本人患者でも検出され、日本人患者で 3 番目. に頻度が多い ...
    www.onj.jp/list/download/HLCS.pdf
  • Clinical findings and biochemical and molecular analysis of ...
    Holocarboxylase synthetase (HLCS) deficiency (HLCSD) is a rare autosomal recessive disorder of biotin metabolism.
    www.medscape.com/medline/abstract/12124727?prt=true
  • Clinical findings and biochemical and molecular analysis of ...
    Six mutations in the HLCS gene were identified, including two novel (N511K and G582R) and four known missense mutations (L216R, R508W, V550M, and G581S) ...
    www.ncbi.nlm.nih.gov/pubmed/12124727
  • PubMed: 12124727
    Six mutations in the HLCS gene were identified, including two novel (N511K and G582R) and four known missense mutations (L216R, R508W, V550M, and G581S) ...
    www.genome.jp/dbget-bin/www_bget?pubmed+12124727

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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