CRISP2 C196R - GET-Evidence

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

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Curation:
Currentness:

CRISP2 C196R

(CRISP2 Cys196Arg)


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

  • G @ chr6:49663567: 1.3% (144/10758) in EVS
  • G @ chr6:49771525: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.3% (144/10758)

Publications
 

Genomes
 

 

 

Other external references
 

    dbSNP
  • rs36069724
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (22 hits -- see all)
  • Polymorphisms in the human cysteine-rich secretory protein 2 ...
    The C196R substitution resulted in the loss of CRISP2–GGN1 binding. ... the C196R polymorphism may compromise CRISP2 function. Key words: CRISP2/TPX1/GGN/male ...
    humrep.oxfordjournals.org/cgi/content/full/23/9/2151
  • Polymorphisms in the human cysteine-rich secretory protein 2 ...
    CRISP2 variations contribute to male infertility, we screened coding ... The C196R substitution resulted in the loss of. CRISP2 – GGN1 binding. ...
    humrep.oxfordjournals.org/cgi/reprint/23/9/2151.pdf
  • de Kretser, DM (D M)
    The C196R substitution resulted in the loss of CRISP2-GGN1 binding. ... functional studies suggested that the C196R polymorphism may compromise CRISP2 function. ...
    lib.bioinfo.pl/auid:155086
  • BioPortfolio - CRISP2
    CRISP2 - BioPortfolio ... METHODS AND RESULTS: In order to test the hypothesis that CRISP2 variations ... The C196R substitution resulted in the loss of CRISP2-GGN1 binding. ...
    www.bioportfolio.com/search/CRISP2.html
  • Online Supplement A Polymorphism in the Protease-like Domain ...
    Cardiovascular Research Institute, UCSF, 513 Parnassus Ave, San Francisco, CA ... rs36069724 CRISP2 0.0159. rs1044140 BAZ1A 0.0139. rs1048152 CSN3. 0.0324 ...
    atvb.ahajournals.org/cgi/data/ATVBAHA.107.141291/DC1/1
  • DOI: 10.1161/ATVBAHA.107.141291 published online Jun 14, 2007 ...
    Arteriosclerosis, Thrombosis, and Vascular Biology is published by the American ... rs36069724 CRISP2 0.0159. rs1044140 BAZ1A 0.0139. rs1048152 CSN3. 0.0324 ...
    atvb.ahajournals.org/cgi/reprint/ATVBAHA.107.141291v1.pdf
  • Human Reproduction RSS Page 15
    Login / Register for free to get access to My MedWorm. Human ReproductionThis is an RSS ... suggested that the C196R polymorphism may compromise CRISP2 function. ...
    medworm.com/rss/search.php?qu=Human+Reproduction&t=Human+...
  • The CAP Superfamily: Cysteine-Rich Secretory Proteins ...
    ... Crisp2, and Crisp4 are localized to chromosome 9q12; and mouse Crisp1, Crisp2, and ... branch preceding the CRISP2/CRISP3 subclade (Fig. 2) indicates that CRISP2 and CRISP3 are ...
    edrv.endojournals.org/cgi/content/full/29/7/865
  • The CAP Superfamily: Cysteine-Rich Secretory Proteins ...
    CRISP2, and CRISP3 are localized to chromosome 6p21.3; rat ... Crisp2, and Crisp4 are localized to chromosome 9q12; and mouse Crisp1, Crisp2, and ...
    edrv.endojournals.org/cgi/reprint/29/7/865.pdf
  • CRISP2 Gene - GeneCards | CRIS2 Protein | CRIS2 Antibody
    CRISP2 Gene in genomic location: bands according to Ensembl, ... R&D Systems Antibodies for CRISP2 (CRISP-2) Search for antibodies at Abcam and the ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=CRISP2&snp=96

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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