NOD2 P268S - GET-Evidence

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

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Curation:
Currentness:

NOD2 P268S

(NOD2 Pro268Ser)


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 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 @ chr16:50744624: 19.7% (2123/10756) in EVS
  • T @ chr16:49302124: 14.8% (19/128) in GET-Evidence
  • Frequency shown in summary reports: 19.7% (2123/10756)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom T @ chr16:50744624

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr16:50744624

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr16:50744624

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr16:50744624

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr16:50744624

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr16:50744624

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr16:50744624

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom T @ chr16:50744624

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr16:50744624

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr16:50744624

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chr16:50744624

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr16:50744624

 

Added in this revision:

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr16:50744624

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr16:49302125

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr16:49302125

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr16:49302125

 

GS19700 - var-GS19700-1100-36-ASM
hom T @ chr16:49302125

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr16:49302125

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr16:49302125

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr16:49302125

 

Other external references
 

    dbSNP
  • rs2066842
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (182 hits -- see all)
  • Is age of onset of Crohn's disease governed by mutations in ...
    Mutations in the NOD2/caspase recruitment domains 15 (CARD15) and in the Toll ... Presence of P268S in the absence of known NOD2/CARD15 mutations was correlated ...
    www.ncbi.nlm.nih.gov/pubmed/16148063
  • Expression of NOD2 in Paneth cells: a possible link to ...
    Expression of NOD2 in Paneth cells: a possible link to Crohn's ... P268S/L1007fsinsC were generated by a PCR method using P268S DNA as templates. The generated PCR products ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1773866
  • Medline ® Abstract for Reference of 'Immunologic basis for ...
    METHODS: Individuals were genotyped for 4 NOD2 mutations: P268S, R702W, G908R, and 3020insC. ... Cases were stratified by disease site and compared across NOD2 genotypes. ...
    uptodate.com/patients/content/abstract.do?...&refNum=13
  • A Novel NOD2/CARD15 Haplotype Conferring Risk for Crohn ...
    Three coding variants of the NOD2/CARD15 have been reported as independent disease-predisposing mutations ... NOD2/CARD15 polymorphisms observed in P268S-alone haplotypes in ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • GastroHep News Story
    Three NOD2 gene mutations associated with increased risk of IBD ... Individuals were genotyped for 4 NOD2 mutations: P268S, R702W, G908R, and 3020insC. ...
    www.gastrohep.com/news/news.asp?id=1196
  • Reduced α-defensin expression is associated with inflammation ...
    independent of NOD2 status and is due to loss of surface. epithelium as a consequence of ... common NOD2 genotype; wild-type P268S genotype indicates a ...
    gut.bmj.com/content/57/7/903.full.pdf+html
  • Early-onset Crohn Disease Is Associated With Male Sex and a ...
    Mutations in the NOD2/caspase recruitment domains 15 (CARD15) and in the Toll ... Presence of P268S in the absence of known NOD2/CARD15 mutations was correlated ...
    lib.bioinfo.pl/pmid:19934771
  • Genes and Immunity - Abstract of article: NOD2//CARD15, TLR4 ...
    Genes and Immunity is a journal dedicated to functional genetics of the immune response. ... for variants of NOD2/CARD15 (1007fsinsC, G908R, R702W, P268S), TLR4 (A299G) and CD14 ...
    www.nature.com/doifinder/10.1038/sj.gene.6364111
  • Chen, FF (Felicia F)
    Nod2 an is an intracellular sensor of a specific bacterial cell wall component, ... Expression of mouse Nod2 Nod2 activated NF-kappaB and conferred responsiveness ...
    lib.bioinfo.pl/auid:1938263
  • NF-{kappa}B-Inducing Kinase Regulates Selected Gene ...
    Nod2 is believed to play a role in determining host responses to invasive ... Nod2 and mediates induction of specific changes induced by the specific Nod2 ...
    iai.asm.org/cgi/content/full/74/4/2121

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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