DHCR7 R352W - GET-Evidence

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

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Curation:
Currentness:

DHCR7 R352W

(DHCR7 Arg352Trp)


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)
  • 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
  • Mutations in the Delta7-sterol reductase gene in patients ...
    Here we identify the SLOS gene as a Delta7-sterol reductase (DHCR7, EC 1.3.1. ... The missense mutations L99P, V326L, R352W, R404C, and G410S reduced heterologous protein ...
    www.ncbi.nlm.nih.gov/pubmed/9653161
  • 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.medscape.com/medline/abstract/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
    To date, over 100 mutations of DHCR7 have been identified. ... Given that the Dhcr7 –/– pups die during the first day of life, we were not able ...
    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 ... The missense mutations L99P, V326L, R352W, R404C, and G410S reduced heterologous ...
    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
    Here we identify the SLOS gene as a Delta7-sterol reductase (DHCR7, EC 1.3.1. ... The missense mutations L99P, V326L, R352W, R404C, and G410S reduced heterologous protein ...
    www.genome.jp/dbget-bin/www_bget?pubmed+9653161
  • Mutational Spectrum in the D7-Sterol Reductase Gene and ...
    zygosity for 0 mutations in DHCR7 appears compatible. with life, suggesting that ... R352W) in the DHCR7 gene. Even so, it seems con- ceivable that one or ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Oxidoreductases Acting on CH-CH Group Donors
    Using radiation-hybrid mapping, we show that the DHCR7 gene is encoded at chromosome 11q12-13. To establish ... missense mutations L99P, V326L, R352W, R404C, and G410S reduced ...
    lib.bioinfo.pl/meid:9740

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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