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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9HC29: Variant p.Arg702Trp

Nucleotide-binding oligomerization domain-containing protein 2
Gene: NOD2
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Variant information Variant position: help 702
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Tryptophan (W) at position 702 (R702W, p.Arg702Trp).
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score: help -3
Variant description: help In IBD1 and YAOS; associated with disease susceptibility; decreased NF-kappa-B activation in response to muramyl dipeptide stimulation; no disruption of NOD2-CARD9 interaction; decreases half-life of protein; abolishes interaction with ANKHD1, ENTR1 and TRIM41; increases interaction with RIPK2 and PPP2R3B; decreases interaction with LDOC1 and PPP1R12C; no effect on interaction with CHMP5; decreased NF-kappa-B activation in response to muramyl dipeptide stimulation.
Other resources: help


Sequence information Variant position: help 702
Protein sequence length: help 1040
Location on the sequence: help LSREHWGLLAECQTSEKALL R RQACARWCLARSLRKHFHSI
Residue conservation: help 
Human                         LSREHWGLLAECQTSEKALLRRQACARWCLARSLRKHFHSI

Chimpanzee                    LSREHWGLLAECQTSEKALLRRQACARWCLARSLRKHFHSI

Mouse                         LSQQHRDLLAACQVSERVLLQRQARARSCLAHSLREHFHSI

Bovine                        LSQEHRSLLAECQASETALLRRWDCVRRCLTRSLREHFRSI

Rabbit                        LSREHRDLLAACQASERSLLRRRACARWCLARSLHKHFRSI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1040 Nucleotide-binding oligomerization domain-containing protein 2
Alternative sequence 225 – 1040 Missing. In isoform 3.
Mutagenesis 690 – 690 L -> P. Abolished NF-kappa-B activation in response to muramyl dipeptide stimulation.
Mutagenesis 691 – 691 A -> T. Abolished NF-kappa-B activation in response to muramyl dipeptide stimulation.
Mutagenesis 710 – 710 C -> Y. Constitutive NF-kappa-B activation; when associated with R-680.
Mutagenesis 714 – 714 S -> N. Abolished NF-kappa-B activation in response to muramyl dipeptide stimulation.
Mutagenesis 719 – 719 F -> I. Constitutive NF-kappa-B activation; when associated with R-731.



Literature citations
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
Hugot J.-P.; Chamaillard M.; Zouali H.; Lesage S.; Cezard J.-P.; Belaiche J.; Almer S.; Tysk C.; O'Morain C.A.; Gassull M.; Binder V.; Finkel Y.; Cortot A.; Modigliani R.; Laurent-Puig P.; Gower-Rousseau C.; Macry J.; Colombel J.-F.; Sahbatou M.; Thomas G.;
Nature 411:599-603(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2); INVOLVEMENT IN IBD1; VARIANTS IBD1 THR-140; ARG-157; CYS-235; ARG-248; ASN-291; SER-294; VAL-301; TRP-311; VAL-348; ARG-352; CYS-373; SER-414; LEU-431; VAL-432; LYS-441; THR-612; VAL-612; TRP-684; TRP-702; CYS-703; CYS-713; GLY-725; VAL-755; VAL-758; LYS-778; MET-793; LYS-843; SER-853; VAL-863; THR-885; ARG-908 AND ASP-924; VARIANTS MET-189; SER-268; SER-289; ASP-918 AND ILE-955; Host recognition of bacterial muramyl dipeptide mediated through NOD2. Implications for Crohn's disease.
Inohara N.; Ogura Y.; Fontalba A.; Gutierrez O.; Pons F.; Crespo J.; Fukase K.; Inamura S.; Kusumoto S.; Hashimoto M.; Foster S.J.; Moran A.P.; Fernandez-Luna J.L.; Nunez G.;
J. Biol. Chem. 278:5509-5512(2003)
Cited for: FUNCTION; VARIANTS IBD1 TRP-702; ARG-908 AND 1007-LEU--LEU-1040 DELINS PRO; CHARACTERIZATION OF VARIANTS IBD1 TRP-702; ARG-908 AND 1007-LEU--LEU-1040 DELINS PRO; Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases.
Chamaillard M.; Philpott D.; Girardin S.E.; Zouali H.; Lesage S.; Chareyre F.; Bui T.H.; Giovannini M.; Zaehringer U.; Penard-Lacronique V.; Sansonetti P.J.; Hugot J.P.; Thomas G.;
Proc. Natl. Acad. Sci. U.S.A. 100:3455-3460(2003)
Cited for: FUNCTION; VARIANTS BLAUS GLN-334; TRP-334 AND PHE-469; VARIANTS IBD1 TRP-702; VAL-863 AND 1007-LEU--LEU-1040 DELINS PRO; CHARACTERIZATION OF VARIANTS BLAUS GLN-334; TRP-334 AND PHE-469; CHARACTERIZATION OF VARIANTS IBD1 TRP-702; VAL-863 AND 1007-LEU--LEU-1040 DELINS PRO; Interaction between NOD2 and CARD9 involves the NOD2 NACHT and the linker region between the NOD2 CARDs and NACHT domain.
Parkhouse R.; Boyle J.P.; Mayle S.; Sawmynaden K.; Rittinger K.; Monie T.P.;
FEBS Lett. 588:2830-2836(2014)
Cited for: INTERACTION WITH CARD9; VARIANTS IBD1 ALA-357; PHE-363 AND VAL-550; VARIANT ALA-463; CHARACTERIZATION OF VARIANTS IBD1 ARG-248; ALA-357; PHE-363; LEU-431; LYS-441; VAL-550; VAL-612 AND TRP-702; CHARACTERIZATION OF VARIANT BLAUS TRP-334; CHARACTERIZATION OF VARIANT ALA-463; MUTAGENESIS OF ASP-379; The molecular chaperone HSP70 binds to and stabilizes NOD2, an important protein involved in Crohn disease.
Mohanan V.; Grimes C.L.;
J. Biol. Chem. 289:18987-18998(2014)
Cited for: INTERACTION WITH HSPA1A; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS IBD1 TRP-702 AND ARG-908; Characterization and Genetic Analyses of New Genes Coding for NOD2 Interacting Proteins.
Thiebaut R.; Esmiol S.; Lecine P.; Mahfouz B.; Hermant A.; Nicoletti C.; Parnis S.; Perroy J.; Borg J.P.; Pascoe L.; Hugot J.P.; Ollendorff V.;
PLoS ONE 11:E0165420-E0165420(2016)
Cited for: INTERACTION WITH ANKHD1; C10ORF67; CHMP5; DOCK7; ENTR1; KRT15; LDOC1; PPP1R12C; PPP2R3B; RIPK2; TRIM41 AND VIM; INDUCTION; CHARACTERIZATION OF VARIANTS IBD1 TRP-702 AND ARG-908; CHARACTERIZATION OF VARIANT BLAUS GLN-334; Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutations.
Li J.; Moran T.; Swanson E.; Julian C.; Harris J.; Bonen D.K.; Hedl M.; Nicolae D.L.; Abraham C.; Cho J.H.;
Hum. Mol. Genet. 13:1715-1725(2004)
Cited for: VARIANTS IBD1 TRP-702; ARG-908 AND 1007-LEU--LEU-1040 DELINS PRO; CHARACTERIZATION OF VARIANTS IBD1 TRP-702; ARG-908 AND 1007-LEU--LEU-1040 DELINS PRO; FUNCTION; Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease.
Schnitzler F.; Brand S.; Staudinger T.; Pfennig S.; Hofbauer K.; Seiderer J.; Tillack C.; Goke B.; Ochsenkuhn T.; Lohse P.;
Immunogenetics 58:99-106(2006)
Cited for: VARIANTS IBD1 TRP-311; TRP-702; CYS-703; HIS-713; VAL-755; CYS-760; TRP-790 AND ARG-908; VARIANTS SER-268; SER-289; CYS-391; ALA-463; TRP-791; LYS-825 AND VAL-849; A new category of autoinflammatory disease associated with NOD2 gene mutations.
Yao Q.; Zhou L.; Cusumano P.; Bose N.; Piliang M.; Jayakar B.; Su L.C.; Shen B.;
Arthritis Res. Ther. 13:R148-R148(2011)
Cited for: INVOLVEMENT IN YAOS; VARIANT YAOS TRP-702;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.