CYP1B1 N453S - GET-Evidence

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

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Curation:
Currentness:

CYP1B1 N453S

(CYP1B1 Asn453Ser)


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

  • C @ chr2:38298139: 13.3% (1432/10758) in EVS
  • C @ chr2:38151642: 11.7% (15/128) in GET-Evidence
  • Frequency shown in summary reports: 13.3% (1432/10758)

Publications
 

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr2:38298139

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr2:38298139

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr2:38298139

 

 

 

 

 

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr2:38298139

 

 

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr2:38151643

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr2:38151643

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr2:38151643

 

Other external references
 

    dbSNP
  • rs1800440
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.837 (possibly damaging)
    Web search results (187 hits -- see all)
  • Association of a common coding polymorphism (N453S) of the ...
    Association of a common coding polymorphism (N453S) of the cytochrome P450 1B1 (CYP1B1) gene with optic disc cupping and visual field alteration ...
    www.ncbi.nlm.nih.gov/pubmed/16319821
  • CYP1B1
    CYP1B1*4. CYP1B1.4. 4390A>G. N453S. Stoilov et al, 1998. Bailey et al, 1998. CYP1B1*5. CYP1B1.5 ... 12. CYP1B1.12. 182G>A. b. G61E. Stoilov et al, 1998. CYP1B1*13. 501_502insT ...
    www.cypalleles.ki.se/cyp1b1.htm
  • Melki, Mol Vis 2005; 11:1012-1017.
    Methods: Six common CYP1B1 variants, 5 coding and one in promoter, were compared ... Conclusions: The common N453S coding variant of CYP1B1 is potentially a factor ...
    www.molvis.org/molvis/v11/a121
  • Association of a common coding polymorphism (N453S) of the ...
    we recently reported that mutations in a fourth gene, CYP1B1, ... The common N453S coding variant of CYP1B1 is potentially a factor of severity in ...
    www.metrovision.fr/pdf/2005_melki.pdf
  • v11a121-melki.hsm
    Five variants formed two groups with tightly correlated alleles while the sixth one, N453S, was independent. ... {The common N453S coding variant of \i{CYP1B1} is potentially a ...
    www.molvis.org/molvis/v11/v11a121-melki.hsm
  • CYP1B1 variants are associated with prostate cancer in non ...
    CYP1B1 variants are associated with prostate cancer in non-Hispanic and Hispanic Caucasians. ... 4390A/G(N453S) was found to occur more frequently in controls, as compared to ...
    www.ashg.org/genetics/ashg07s/f10743.htm
  • CYP1A1 and CYP1B1 genotypes, haplotypes, and TCDD-induced ...
    CYP1A1 and CYP1B1 genotypes, haplotypes, and TCDD-induced gene ... The frequency of CYP1B1 variants was 85.2% for L432V, 49.6% for R48G and A119S, and 28.7% for N453S. ...
    www.ncbi.nlm.nih.gov/pubmed/15596250
  • Globally, CYP1B1 Mutations in Primary Congenital Glaucoma Are ...
    CYP1B1. —R48G, A119S, V432L, D449D, and N453S—were used. to generate haplotype data from ... short tandem repeat (STR) loci on chromosome 2, around the CYP1B1 ...
    www.iovs.org/cgi/reprint/47/1/43.pdf
  • Validation of OncoVue
    CYP1B1 (N453S) EPHX. TNFSF6. XPC. COMT. CYP19. INS. CYP1A1. ACACA (IVS17) IGF2. NUMREL. AGEFLB ... CYP1B1 (N453S) CYP1B1 (R48G) ESR1. VDR. DNA Repair. MSH6. RAD51L3. XPC ...
    www.abstracts2view.com/sabcs/viewp.php?nu=p502
  • British Journal of Cancer - Polymorphisms in the CYP1B1 gene ...
    CYP1B1 has been evaluated as a candidate gene for various cancers ... The other two nonsynonymous changes, L432V and N453S, are both located in exon 3, which ...
    www.nature.com/bjc/journal/v89/n8/full/6601288a.html

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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