CYP2B6 R22C - GET-Evidence

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CYP2B6 R22C

(CYP2B6 Arg22Cys)


You are viewing the latest version of this page, saved on November 29, 2012 at 7:39am by Genome Importing Robot.

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 @ chr19:41497274: 4.8% (512/10758) in EVS
  • T @ chr19:46189113: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 4.8% (512/10758)

Publications
 

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PubMed PMID: 19005482

 

Genomes
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr19:41497274

 

Added in this revision:

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom T @ chr19:41497274

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr19:46189114

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr19:46189114

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr19:46189114

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr19:46189114

 

Other external references
 

    dbSNP
  • rs8192709
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [cyclophosphamide]
    Risk or phenotype-associated allele: T. Phenotype: CYP2B6*2 genotype in the transplant recipient was associated with hemorrhagic cystitis. Study size:107 . Study population/ethnicity: Donors and patients with leukemia after HLA-identical hematopoietic stem cell transplantation, France. Significance metric(s): p = 0.03. Type of association: TOX
    www.ncbi.nlm.nih.gov/pubmed/19005482
    PolyPhen-2
  • Score: 0.639 (possibly damaging)
    Web search results (58 hits -- see all)
  • CYP2B6
    R22C. Lamba et al., 2003. CYP2B6*3. CYP2B6.3. 777C>A. 18045C>A. S259R. Lang et al., 2001. CYP2B6 ... Q21L; R22C. Lang et al., 2004. CYP2B6*11A. CYP2B6.11. 136A>G. 136A>G. M46V ...
    www.cypalleles.ki.se/cyp2b6.htm
  • CYP2A7P1 [PharmGKB]
    CYP2B6:516G>T is part of the CYP2B6 haplotype. It has been associated ... CYP2B6:1459C>T has been reported to reduce CYP2B6 protein expression in human ...
    www.pharmgkb.org/do/serve?objId=PA27103&objCls=Gene
  • CYP2B6 [PharmGKB]
    Variants CYP2B6:516G>T and CYP2B6:983T>C as well as haplotypes CYP2B6*4 and CYP2B6*6 have ... rs8192709 at chr19:46189114 in CYP2A7P1, CYP2B6. Risk or phenotype ...
    www.pharmgkb.org/do/serve?objId=PA123&objCls=Gene
  • Multiple novel nonsynonymous CYP2B6 gene polymorphisms in ...
    The human microsomal cytochrome P450, CYP2B6, is involved in the biotransformation of ... R22C), CYP2B6.11 (M46V), CYP2B6.12 (G99E), CYP2B6.13 (K139E, Q172H, ...
    www.ncbi.nlm.nih.gov/pubmed/15190123
  • Gendia | Pharmacogenetic Tests
    Tests determining the toxicity of chemotherapeutics such as 5-Fluorouracil, ... Such toxicity is caused by mutations in the genes encoding Dihydropyrimidine ...
    www.gendia.net/tests_tab17.html
  • Bupropion and 4-OH-bupropion pharmacokinetics in relation to ...
    The amino acid polymorphisms R22C, Q172H, S259R, K262R and R487C were analysed ... by the known CYP2B6 amino acid variants, in particular by the CYP2B6*4 allele. ...
    www.ncbi.nlm.nih.gov/pubmed/14515060
  • Cytochrome P450 2B6 - Homo sapiens (Human)
    "A single nucleotide polymorphism of CYP2b6 found in Japanese enhances catalytic ... CYP2B6 expression: gender and ethnic differences and relationship to CYP2B6 ...
    www.uniprot.org/uniprot/P20813
  • michalibrewery -
    The amino acid polymorphisms R22C, Q172H, S259R, K262R and R487C were analysed ... by the known CYP2B6 amino acid variants, in particular by the CYP2B6 4 allele. ...
    www.oppikoppi.co.za/user/Profile.aspx?UserID=13300
  • Gene-gene interactions between CYP2B6 and CYP2A6 in nicotine ...
    Gene-gene interactions between CYP2B6 and CYP2A6 in nicotine metabolism. ... Five CYP2B6 genetic polymorphisms causing amino acid substitutions (R22C, Q172 H, ...
    www.infodoctor.org:8080/uid=18004205
  • Pharmaco-Gendia | Other Disciplines
    A large amount of variations have been described in the genes encoding phase I ... A complete table of all variations offered through GENDIA is listed below. ...
    www.pharmaco-gendia.net/tests_tab2.html

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

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