HLCS R508W - GET-Evidence

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

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Curation:
Currentness:

HLCS R508W

(HLCS Arg508Trp)


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: 1.0 (probably damaging)
    Web search results (38 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
    Applications of mutation analysis in HLCS had been limited previously by the ... The results suggest that R508W may be an important and relatively prevalent ...
    cmbi.bjmu.edu.cn/ChinaPaper/details.asp?PubMedID=12633764
  • OMIM: 609018
    0003 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HLCS, ASP571ASN In a patient with ... in the HLCS gene, resulting in an arg508-to-trp (R508W) 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. ... This HLCS mutant was shown in a later study to contain the p.R508W allele ...
    www.sc.mahidol.ac.th/scbc/bc_internet/publication/918.pdf
  • CUIR at Chulalongkorn University: Item 123456789/8182
    The R508W was present in 6 of 8 alleles found in four patients. ... microsatellite markers in the HLCS and found that R508W was present in three haplotypes. ...
    cuir.car.chula.ac.th/handle/123456789/8182
  • 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.R508W、 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 ...
    www.onj.jp/list/download/HLCS.pdf
  • ราชวิทยาลัยกุมารแพทย์แห่งประเทศไทย :: The Royal College of ...
    เพื่อศึกษาอาการแสดง ธรรมชาติของโรค การตอบสนองต่อการรักษา และการกลายพันธุ์ในผู้ป่วยไทยที... activity and had mutations of HLCS gene. R508W was the most common mutation allele. ...
    www.thaipediatrics.org/detail_journal.php?journal_id=79
  • CUIR at Chulalongkorn University: Item 123456789/3782
    Please use this identifier to cite or link to this item: http://hdl. ... activity and had mutations of HLCS gene. R508W was the most common mutation allele. ...
    cuir.car.chula.ac.th/handle/123456789/3782
  • 01_Rel_2002
    C.H.A.T.: CHECKLIST FOR AUTISM IN TODDLERS (per bambini di 18 mesi – Adattato da S. Baron ... 1. Al vostro bambino piace essere cullato, fatto saltellare ...
    www.clinped.unimi.it/atti/Relazioni_04.pdf
  • 研究業績|東北大学大学院 医学研究科 遺伝病学分野
    Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, ... Kure S, Matsubara Y (2005) Mutations in the holocarboxylasesynthetase gene HLCS. ...
    www.medgen.med.tohoku.ac.jp/achievements/index.html

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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