HSD17B10 R130C - GET-Evidence

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

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Curation:
Currentness:

HSD17B10 R130C

(HSD17B10 Arg130Cys)


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 (20 hits -- see all)
  • HSD17B10 - hydroxysteroid (17-beta) dehydrogenase 10 ...
    The HSD17B10 gene is also known by other names, listed below. ... How are changes in the HSD17B10 gene related to health conditions? 17β-hydroxysteroid ...
    www.ghr.nlm.nih.gov/gene=hsd17b10
  • Hydroxysteroid 17beta dehydrogenase 10 HSD17B10 - Medpedia
    The information on this page is seed content provided by an organization. Please help ... HSD17B10 is the gene's official symbol. The HSD17B10 gene is also known by other names, ...
    wiki.medpedia.com/Hydroxysteroid_17beta_dehydrogenase_10_HSD17B10...
  • Mental retardation linked to mutations in the HSD17B10 gene ...
    Mutations in the HSD17B10 gene were identified in two previously described mentally retarded males. ... Protein levels of mutant HSD10(R130C) in patient SF and HSD10(E249Q) ...
    www.ncbi.nlm.nih.gov/pubmed/19706438
  • 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is ...
    Department of Clinical Chemistry, Academic Medical Center, Emma Children's ... MHBD deficiency revealed the presence of two missense mutations (R130C and L122V) ...
    www.ncbi.nlm.nih.gov/pubmed/12696021
  • EC 1.3.99.2 - butyryl-CoA dehydrogenase
    R130C. Homo sapiens. affects brain development and brain function in ... HSD17B10: a gene involved in cognitive function through metabolism of isoleucine ...
    www.brenda-enzymes.info/php/result_flat.php4?ecno=1.3.99.2
  • Philipp, M (Manfred)
    Philipp, M (Manfred) :: Influence of Leaving-Group Electronic Effect ... Mutations for in the HSD17B10 gene were identified in two previously described mentally retarded males. ...
    lib.bioinfo.pl/auid:7262913
  • Malik, M (Mazhar)
    Mutations in the HSD17B10 gene were identified in two previously ... Protein levels of mutant HSD10(R130C) in patient SF and HSD10(E249Q) in patient SV were about half that of ...
    lib.bioinfo.pl/auid:2377388
  • Katja Martina Schöler Dr. med. Funktionelle Charakterisierung ...
    konnte so für die Mutanten R130C, Q165H, N247S und E249Q festgestellt werden. ... dem Wildtypprotein führen, R130C ist nach Zugabe von Kofaktor deutlich ...
    archiv.ub.uni-heidelberg.de/volltextserver/.../Schoeler.pdf
  • Connexion
    HSD17B10. Main clinical features. inborn error in the metabolism of isoleucine, with loss ... R130C. Remark(s) Options. Map. Phenotype keyword(s) Iconography ...
    genatlas.medecine.univ-paris5.fr/phenotype.php?symbol=MHBD
  • 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is ...
    2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency is a novel inborn error of isoleucine degradation.
    www.medscape.com/medline/abstract/12696021

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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