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Curation:

Currentness:

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NOD2 P268S

(NOD2 Pro268Ser)

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Variant evidence
Computational		-

Functional		-

Case/Control		-

Familial		-


Clinical importance
Severity		-

Treatability		-

Penetrance		-

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

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

Added in this revision:

Other external references

dbSNP

rs2066842
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the NOD2 gene
Blau Syndrome
Crohn Disease
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NOD2

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

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_H05 from PGP sample 10971581 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C07 from PGP sample 74521372 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_D02 from PGP sample 27316983 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D05 from PGP sample 1205491 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B05 from PGP sample 83494370 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_A04 from PGP sample 13272228 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F02 from PGP sample 70008981 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_C02 from PGP sample 10366372 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000005532 view
Jun 23 2011 Genome Importing Robot removed [NA12878] view
Jun 23 2011 Genome Importing Robot removed [NA07022] view
Mar 29 2011 Genome Importing Robot added var-GS20509-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS20502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19834-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19700-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19669-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06994-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS12004-1100-36-ASM view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_H01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_F01_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_B01_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_E01_200_37 view
Dec 27 2009 Genome Importing Robot added CGI sample GS00253-DNA_A01_200_37 view
Dec 27 2009 Genome Importing Robot added [NA07022] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added variant view

NOD2 P268S - GET-Evidence