CYP11B1 R43Q - GET-Evidence

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

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Curation:
Currentness:

CYP11B1 R43Q

(CYP11B1 Arg43Gln)


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

  • T @ chr8:143961102: 2.1% (224/10758) in EVS
  • T @ chr8:143958103: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 2.1% (224/10758)

Publications
 

Genomes
 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom T @ chr8:143961102

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr8:143961102

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr8:143961102

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr8:143958104

 

GS18526 - var-GS18526-1100-36-ASM
hom T @ chr8:143958104

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr8:143958104

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr8:143958104

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr8:143958104

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr8:143958104

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr8:143958104

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr8:143958104

 

Other external references
 

    dbSNP
  • rs4534
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CYP11B1 gene
    Familial Hyperaldosteronism Type 1
    11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP11B1
    Web search results (17 hits -- see all)
  • Functional effects of genetic variants in the 11beta ...
    Functional effects of genetic variants in the 11beta-hydroxylase (CYP11B1) gene. ... the CYP11B1 gene that alter the encoded amino acids: R43Q, L83S, ...
    www.ncbi.nlm.nih.gov/pubmed/17121536
  • Pharma DMET - SNPedia
    ... noncore snp rs1130841 CYP11B1 CYP11B1_128G>A(R43Q) noncore snp rs4534 CYP11B1 ... noncore snp rs1134095 CYP11B1 CYP11B1_7293>(rs4736312) noncore snp ...
    www.snpedia.com/index.php/Pharma_DMET
  • Unequal Crossing-Over between Aldosterone Synthase and 11 ...
    CYP11B1 and CYP11B2 are located on chromosome 8q24 approximately 45 kb apart ... The high similarity of CYP11B1 and CYP11B2 enabled two chromatids to ...
    jcem.endojournals.org/cgi/content/full/86/9/4445
  • Unequal Crossing-Over between Aldosterone Synthase and 11 ...
    tations on CYP11B1 are distributed over the entire coding. region, but cluster in exons 2, ... In humans CYP11B1 and CYP11B2 are. encoded by two genes, which lie tandemly arranged ...
    jcem.endojournals.org/cgi/reprint/86/9/4445.pdf
  • Supplementary Table xls.3
    CYP11B1. 1584. 8. 143958104. NM_000497. NP_000488. A/G. R43Q. minus. 8040. 504 ... CYP11B1. 1584. 8. 143953458. NM_000497. NP_000488. C/T. Y439H. minus. 24796366 ...
    icr.ac.uk/research/research_sections/.../2845.xls
  • Table 1 Text
    B, polypeptide 1" 266 rs4534 CYP11B1 1584 8 143958104 NM_000497 NP_000488 A/G R43Q minus 24054239 1373 PERLEGEN AFD_CHN_PANEL Chinese (24) 46 0.46 ...
    icr.ac.uk/research/research_sections/.../2841.txt
  • Microsoft Word - 文書 1
    CYP11B1. の多型と、産生の場であるヒト副腎組織の B1. 発現量さらに中間表現型や疾病との関連を検討した。 【方法】正常/アルドステロン産生 ... 検出した R43Q と+225G/A (Y75)両多型のヘテロ接合体サンプルを Msp I と Bfa I で処理し. アリル毎の mRNA ...
    plaza.umin.ac.jp/stero15/shouroku.pdf
  • MacDonald, T (Tom)
    Functional effects of genetic variants in the 11beta-hydroxylase (CYP11B1) gene. ... in the CYP11B1 gene that alter the encoded amino acids: R43Q, L83S, H125R, P135S, ...
    lib.bioinfo.pl/auid:4944360
  • Barr, M (Marianne)
    Barr, M (Marianne) :: Polymorphic Variation in the 11{beta}-Hydroxylase Gene Associates ... in the CYP11B1 gene that alter the encoded amino acids: R43Q, L83S, H125R, P135S, ...
    lib.bioinfo.pl/auid:7465421

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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