HLCS L216R - GET-Evidence

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

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Curation:
Currentness:

HLCS L216R

(HLCS Leu216Arg)


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: 0.995 (probably damaging)
    Web search results (10 hits -- see all)
  • Reduced half-life of holocarboxylase synthetase from patients ...
    the HLCS deficiency was further investigated by characterisation of the p.L216R protein. ... explanation for the incomplete biotin-responsiveness of this p.L216R form of HLCS. ...
    www.sc.mahidol.ac.th/scbc/bc_internet/publication/918.pdf
  • BioPortfolio - HLCS - holocarboxylase synthetase (biotin ...
    6 HLCS mutations were identified, including 2 new (N511K and G582R) and 4 known missense ... Tthe L216R change is in the N-terminal region outside the biotin ...
    www.bioportfolio.com/gene/3141-HLCS.html
  • OMIM: 609018
    MOLECULAR GENETICS In sibs with HLCS deficiency, Suzuki et al. (1994) demonstrated ... were localized within the HLCS biotin-binding domain, whereas one (L216R; ...
    www.genome.jp/dbget-bin/www_bget?omim+609018
  • Reduced half-life of holocarboxylase synthetase from patients ...
    Multiple carboxylase deficiency is a clinical condition caused by defects in the enzymes involved in biotin metabolism, holocarboxylase synthetase (HLCS) or biotinidase.
    www.medscape.com/medline/abstract/18429047
  • 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 ...
    HLCS catalyzes the biotinylation of the four human biotin-dependent carboxylases. ... are localized within the HLCS biotin-binding domain, whereas the L216R amino ...
    www.ncbi.nlm.nih.gov/pubmed/12124727
  • PubMed: 12124727
    HLCS catalyzes the biotinylation of the four human biotin-dependent carboxylases. ... within the HLCS biotin-binding domain, whereas the L216R amino ...
    www.genome.jp/dbget-bin/www_bget?pubmed+12124727
  • TropHort: Top > Research > Holocarboxylase - Page 1
    Design and methods: Three Chinese patients with late onset HLCS deficiency were studied. ... within the HLCS biotin-binding domain, whereas the L216R amino ...
    trophort.com/research/h/078/holocarboxylase.php
  • MEDLINE - Resultado de la búsqueda <página 1>
    HLCS deficiency is a potentially fatal condition if left untreated, although the ... HLCS deficiency was further investigated by characterisation of the p.L216R ...
    bases.bireme.br/cgi-bin/wxislind.exe/...&lang=e&base=MEDLINE

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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