DHCR7 C380Y - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

DHCR7 C380Y

(DHCR7 Cys380Tyr)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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: 0.998 (probably damaging)
    Web search results (10 hits -- see all)
  • 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.info/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
  • Reference to EC No. 1.3.1.21, ID= 656818
    Lowered DHCR7 activity measured by ergosterol conversion in multiple ... C380Y. natural mutant, Smith-Lemli-Opitz syndrome patient, 1.7% of wild-type enzyme ...
    brenda-enzymes.info/literature/lit.php4?e=1.3.1.21&r=656818
  • 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
  • doi:10.1016/S0169-328X(03)00094-9
    V326L, R352W, C380Y, R404C, G410S. Phenotype. Male lethal. Male lethal. Mental retardation ... DHCR7 k. o. [30] a. Congenital hemidysplasia with ichthyosiform erythroderma and limb ...
    gbic.biol.rug.nl/.../publications/CholesterolExpression.pdf
  • L ABORATORNÍ PRÍ RUCK A
    C380Y, R404C, G410S, R446Q, IVS8. 1G>C) pro Smith. Lem li. Opitz syndrom ... DHCR7 genu. Diagnostika prítomnosti virové DNA humánních papilomaviru ...
    www.pathology.cz/dokumenty/lpm.pdf
  • Žádost o molekulárně genetické vyšetření
    Lemli-Opitz syndrom - vyšetření 10 mutací v DHCR7 genu (L109P, W151X, L157P, V326L, R352Q, C380Y, R404C, G410S, R446Q, IVS8-1G>C) ...
    www.cgb-laborator.cz/obsah/vysledky/download/zadost_mg.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in