NOD2 N289S - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

NOD2 N289S

(NOD2 Asn289Ser)


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 @ chr16:50744688: 0.6% (60/10758) in EVS
  • G @ chr16:49302188: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.6% (60/10758)

Publications
 

Genomes
 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr16:50744688

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr16:50744688

 

NA12878

 

Other external references
 

    dbSNP
  • rs5743271
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.92 (probably damaging)
    Web search results (12 hits -- see all)
  • CARD15/NOD2 Mutational Analysis and Genotype-Phenotype ...
    CARD15/NOD2 Mutational Analysis and Genotype-Phenotype Correlation ... N289S. NBD. 6. 0. 3. 871 GrA. D291N. NBD. 1. 0. 0. 881 CrG. T294S. NBD. 1. 0. 0. 902 CrT. A301V. NBD (P Loop) ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • INFEVERS - Search Form
    See the list of NOD2 sequence variants. Extract data below (for multiple choices, use the ... N289S. exon 4. c.866A>G. p.Asn289Ser. Crohn's disease. Spondylarthropathy ...
    fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=6
  • Gene–environment interaction modulated by allelic ...
    CARD15, formerly called NOD2, has recently been identified as a CD-susceptibility gene (6, ... and W157R, and six within the NACHT domain: N289S, D291N, L348V, 558delLG, A612T, ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC152314
  • Jean-Pierre HUGOT
    L248R. P268S. N289S. D291N. R311W. R373C. N414S. S431L. E441K. 558del LG. A612T ... Card15/Nod2. Non conservative variations. Rioux J. et al. Nature Genet ...
    getaid.org/04-seminaire/documents/.../matin/Hugot.ppt
  • AGM 2008 Factors affecting outcome of HSTC - Neema Mayor
    Crohn's Disease. Breast & Colon Cancer. p.N289S. p.R391C. p.P463A ... NOD2/CARD15. Factors that affect clinical outcome post-HSCT. Outcome in MUD transplant are ...
    wtail.org.uk/pptdocs/AGM08/AGM 2008 Factors affecting out...
  • Gene–environment interaction modulated by allelic ...
    CARD15, formerly called NOD2, has. recently been identified as a CD-susceptibility gene (6, ... N289S, D291N, L348V, 558delLG, A612T, and A612V) were. characterized ...
    inflammation-at-interfaces.de/download.php?...
  • Présentation PowerPoint
    NOD2 protein. Number of chromosomes. 100. 0. 50. A140T. W157R. T189M. R235C. L248R. P268S. N289S ... Nod2/Card15 may have anti-inflammatory properties (Netea MG Eur J ...
    www.script.univ-paris-diderot.fr/doc/geneBG/Crohn.pdf
  • Type III 95%
    ... NOD2 Q9HC29 N289S 284 VAR_012671 CMGC (0.923) gCK1 (0.550) CDK (0.962) ... rs1800371) 11740489 11875057 11780126 NOD2 Q9HC29 T294S 284 VAR_012673 CMGC (0. ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeIII_95.txt
  • Infevers - NOD2 (NM_022162.1) - cDNA - 2009-12-04
    Infevers - NOD2 (NM_022162.1) - cDNA - 2009-12-04. GTAGACAGAT CCAGGCTCAC CAGTCCTGTG ... TGTG CTGGTGGTGG. 895. N289S. D291N. T294S. GTGAGG. C. GGG CAGTGGCAAG AGCACGCTCC TGCAG. C. GGCT ...
    fmf.igh.cnrs.fr/ISSAID/infevers/libPHP/...?n=6

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in