DHCR7 E448K - GET-Evidence

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

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Curation:
Currentness:

DHCR7 E448K

(DHCR7 Glu448Lys)


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: 0.988 (probably damaging)
    Web search results (25 hits -- see all)
  • Smith-Lemli-Opitz syndrome: evidence of T93M as a common ...
    Here we report the mutational analysis of the DHCR7 gene in nine Italian SLOS patients. ... three novel mutations, two missense mutations (N407Y and E448K) ...
    www.ncbi.nlm.nih.gov/pubmed/10602371
  • 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
  • Smith-Lemli-Opitz Syndrome and the DHCR7 Gene
    The human DHCR7 gene is localised on chromosome 11q13 and its structure has been ... one different mutations in the DHCR7 gene have been published to date. ...
    www.slo-deutschland.de/pdf/jira2003.pdf
  • Mutational Spectrum in the D7-Sterol Reductase Gene and ...
    reductase (DHCR7), which catalyzes the final step in. cholesterol ... zygosity for 0 mutations in DHCR7 appears compatible. with life, suggesting that ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • OMIM: 270400
    Nowaczyk et al. (2001) reported the DHCR7 mutations in this family. ... patient had an E448K missense mutation (602858.0018) in the DHCR7 gene. - Modifier Genes ...
    www.genome.jp/dbget-bin/www_bget?omim+270400
  • The Smith…Lemli…Opitz syndrome: a novel metabolic way of ...
    3β-hydroxysteroid-7-reductase (DHCR7), an enzyme catalyzing the. last step of cholesterol ... zation of the human DHCR7 gene and the identification of mutations ...
    www.slo-deutschland.de/pdf/novaczyk.pdf
  • The Smith-Lemli-Opitz syndrome A multiple malformation ...
    DHCR7-enzyme activity has been studied in fibroblasts, liver microsomes and ... DHCR7 (Gen Bank accession number: AF034544) was identified in 1998 and assigned to ...
    jeroenboschziekenhuis.nl/jbz/.../Proefschrift_Petr_Jira.pdf
  • Mutation analysis and description of sixteen RSH/Smith-Lemli ...
    Smith-Lemli-Opitz syndrome • RSH syndrome • DHCR7 • mutation analysis ... and E448K), we have identified six previously undescribed mutations ...
    www3.interscience.wiley.com/journal/73500694/abstract
  • Smith-Lemli-Opitz Syndrome and Autism Spectrum Disorder ...
    Lack of normal DHCR7 activity impairs the conversion of 7-dehydrocholesterol to ... His DHCR7 genotype was c.1139G>A/c.1342G>A (p.C380Y/p.E448K) ...
    ajp.psychiatryonline.org/cgi/content/full/164/11/1655
  • opitz2000.html
    Measurement of DHCR7 activity in CV cells was undertaken using ... mutations, two missense mutations (N407Y and E448K), and a 33 bp deletion spanning part ...
    www.indiana.edu/~pietsch/opitz2000.html

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

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