DHCR7 R404C - GET-Evidence

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

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Curation:
Currentness:

DHCR7 R404C

(DHCR7 Arg404Cys)


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 (61 hits -- see all)
  • Mutations in the Δ7-sterol reductase gene in patients with ...
    Mouse Dhcr7 cDNAs were identified in the expressed sequence tag ... R352W, R404C, and G410S are pathogenic because they decrease expression of the DHCR7 ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC20950/?tool=pubmed
  • Mutational Spectrum in the D7-Sterol Reductase Gene and ...
    zygosity for 0 mutations in DHCR7 appears compatible. with life, suggesting that ... Three of. 5. n = 1. the five R404C homozygotes were from the same Lou ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Mutations in the Delta7-sterol reductase gene in patients ...
    The missense mutations L99P, V326L, R352W, R404C, and G410S reduced heterologous protein expression by >90 ... strongly suggest that defects in the DHCR7 gene cause the SLOS. ...
    www.ncbi.nlm.nih.gov/pubmed/9653161
  • Medline ® Abstract for Reference of 'Causes and clinical ...
    The missense mutations L99P, V326L, R352W, R404C, and G410S reduced heterologous protein expression by>90 ... strongly suggest that defects in the DHCR7 gene cause the SLOS. ...
    uptodate.com/patients/content/abstract.do?...&refNum=8
  • Unit on Molecular Dysmorphology
    Other common mutations include W151X, V326L, R404C, and R352W. SLOS may be more common ... the common W151X allele, DHCR7 enzymatic activity does not increase. ...
    2005annualreport.nichd.nih.gov/hdb/umd.htm
  • Smith-Lemli-Opitz Syndrome :: genetics
    It is caused by mutations in DHCR7 gene, which codes one of the cholesterol biosynthesis enzymes. ... mutations L99P, V326L, R352W, R404C, and G410S reduced heterologous protein ...
    lib.bioinfo.pl/meid:19966
  • Unit on Molecular Dysmorphology
    Other common mutations include W151X, V326L, R404C, and R352W. ... two missense alleles (Dhcr7T93M and Dhcr7L99P) and a conditional Dhcr7 mutant allele (Dhcr7 loxPΔ3-5loxP) ...
    2004annualreport.nichd.nih.gov/hdb/umd.htm
  • PubMed: 9653161
    The missense mutations L99P, V326L, R352W, R404C, and G410S reduced heterologous protein expression by >90 ... strongly suggest that defects in the DHCR7 gene cause the SLOS. ...
    www.genome.jp/dbget-bin/www_bget?pubmed+9653161
  • EC 1.3.1.21 - 7-dehydrocholesterol reductase
    Information on EC 1.3.1.21 - 7-dehydrocholesterol reductase ... expressed transcripts of gene dhcr7 in progenitor Leydig cells and in immature Leydig cells, increased ...
    www.brenda-enzymes.org/php/result_flat.php4?ecno=1.3.1.21
  • The Smith…Lemli…Opitz syndrome: a novel metabolic way of ...
    zation of the human DHCR7 gene and the identification of mutations ... R404C mutation is frequent in the Acadian. population in Louisiana (15); 3 heterozygotes ...
    www.slo-deutschland.de/pdf/novaczyk.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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