CYP1A1 T461N - GET-Evidence

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

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Curation:
Currentness:

CYP1A1 T461N

(CYP1A1 Thr461Asn)


Short summary

 

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

Impact

Insufficiently evaluated pharmacogenetic

(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

  • T @ chr15:75012987: 3.6% (383/10758) in EVS
  • T @ chr15:72800039: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 3.6% (383/10758)

Publications
 

Genomes
 

Other external references
 

    dbSNP
  • rs1799814
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (162 hits -- see all)
  • CYP1A1 [PharmGKB]
    rs1799814 at chr15:72800040 in CYP1A1. Increased risk for smokers to develop gastric ... CYP1A1*4; CYP1A1:T461N; CYP1A1:2453C>A; CYP1A1:4887C>A; CYP1A1:m4 ...
    www.pharmgkb.org/do/serve?objId=PA27092&objCls=Gene
  • CYP1A1
    CYP1A1*4. CYP1A1.4. 2452C>A. m4. T461N. Cascorbi et al., 1996. CYP1A1*5 ... 6. CYP1A1.6. 1635G>T. M331I. Chevalier et al., 2001. CYP1A1*7. 2345_2346insT. 426Frameshift ...
    www.cypalleles.ki.se/cyp1a1.htm
  • Genetic association study of CYP1A1 polymorphisms identifies ...
    ... and CYP1A1*4 (rs1799814 2453C>A Thr461Asn (Exon 7)) using PCR-RFLP methods. CYP1A1*2A and CYP1A1*2C variants ... for CYP1A1 in NSCLC and confirms that CYP1A1 polymorphisms are ...
    erj.ersjournals.com/cgi/content/short/09031936.00120808v1
  • CYP1A1 Gene - GeneCards | CP1A1 Protein | CP1A1 Antibody
    EntrezGene summary for CYP1A1: This gene, CYP1A1, encodes a member of ... CYP1A1 Gene in genomic location: bands according to Ensembl, locations according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=CYP1A1
  • Inhibition of CYP1A1
    Thus, the inhibition of CYP1A1 may be one of the key mechanisms for ... the two allelic variants CYP1A1.2 (Ile462Val) and CYP1A1.4 (Thr461Asn) ...
    hu-berlin.de/forschung/fober/fober05/.../PJ/PJ11713.html
  • CYP1A1, CYP3A5 and CYP3A7 polymorphisms and testicular cancer ...
    CYP1A1, CYP3A5 and CYP3A7 polymorphisms and testicular cancer susceptibility ... of the CYP1A1*2A (MspI), CYP1A1*2C (I462V), CYP1A1*4 (T461N), CYP3A5*3C (A6986G) ...
    www3.interscience.wiley.com/journal/123325889/abstract
  • Genetic association study of CYP1A1 polymorphisms identifies ...
    The CYP1A1*2A and CYP1A1*2C variants were significantly over-represented in ... CYP1A1 haplotypes (in allele order CYP1A1*4, CYP1A1*2C, CYP1A1*2A) CGC and CGT ...
    www.ncbi.nlm.nih.gov/pubmed/19608585
  • Differential metabolism of benzo[a]pyrene and benzo[a]pyrene ...
    CYP1A1.1 exhibited with 10.4 pmol/min/pmol CYP1A1 the greatest total ... the neighboring change of T461N, occurring in CYP1A1.4, is of lesser consequence ...
    carcin.oxfordjournals.org/cgi/content/full/22/3/453
  • Genotyping Panels, Signetâ„¢ Genotyping Panels, Custom-Mixed ...
    Signetâ„¢ Genotyping Panels are specific multiplexes that detect polymorphisms and gene variants associated with a variety of health and nutritional conditions ...
    www.marligen.com/genotyping-panels.html
  • The influence of genetic polymorphisms in Ahr, CYP1A1, CYP1A2 ...
    Variants in Ahr (rs4986826), CYP1A1 (rs1799814), and CYP1A2 (rs2069514) were also, ... Keywords: 1-Hydroxypyrene glucuronide; CYP1A1; CYP1A2; CYP1B1; Ahr; GST; UGT; ...
    carcin.oxfordjournals.org/cgi/content/short/bgl131v1

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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