HLCS V550M - GET-Evidence

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

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Curation:
Currentness:

HLCS V550M

(HLCS Val550Met)


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: 0.993 (probably damaging)
    Web search results (15 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
  • details
    DESIGN AND METHODS: Three Chinese patients with late onset HLCS deficiency were studied. ... patient revealed an additional novel mutation, R565X and a known mutation, V550M. ...
    cmbi.bjmu.edu.cn/ChinaPaper/details.asp?PubMedID=12633764
  • OMIM: 609018
    0003 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HLCS, ASP571ASN In a patient with ... A transition in the HLCS gene, resulting in a val550-to-met (V550M) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+609018
  • 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
  • TropHort: Top > Research > Holocarboxylase - Page 1
    Provides information about Holocarboxylase within the life and earth sciences. ... Design and methods: Three Chinese patients with late onset HLCS deficiency were studied. ...
    trophort.com/research/h/078/holocarboxylase.php
  • Mutations in the holocarboxylase synthetase gene HLCS.
    Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive disorder. ... Mutations p.R508W and p.V550M are identified in several ethic groups and accompanied with ...
    www.medscape.com/medline/abstract/16134170?prt=true
  • 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: 16134170
    Mutations p.R508W and p.V550M are identified in several ethic groups and ... Patients who have mutant HLCS with higher residual activity develop symptom ...
    www.genome.jp/dbget-bin/www_bget?pubmed:16134170
  • Mak, TWL (Tony W L)
    Mak, TWL (Tony W L) :: A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase ...
    lib.bioinfo.pl/auid:4158885

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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