UniProtKB/Swiss-Prot Q9HC29: Variant p.Asn289Ser

Nucleotide-binding oligomerization domain-containing protein 2
Gene: NOD2
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Variant information Variant position:

289 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Asparagine (N) to Serine (S) at position 289 (N289S, p.Asn289Ser). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and polar (N) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs5743271 [ dbSNP | Ensembl ]

Sequence information Variant position:

289 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1040 The length of the canonical sequence.
Location on the sequence:

PQKSPATLGLEELFSTPGHL N DDADTVLVVGEAGSGKSTLL The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         PQKSPATLGLEELFSTPGHLNDDADTVLVVGEAGSGKSTLL

Chimpanzee                    PQKSPATLGLEELFSTPGHLNDDADTVLVVGEAGSGKSTLL

Mouse                         LQKSPAILGLEDLFDTHGHLNRDADTILVVGEAGSGKSTLL

Bovine                        SQQSPTTLGLEELFSTRDHFNKEADTVLVVGEAGSGKSTLL

Rabbit                        LHKSPAALGLEELFSPNGHLNEDADTVLVVGEAGSGKSTLL

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 1040	Nucleotide-binding oligomerization domain-containing protein 2
Binding site	302 – 302
Binding site	303 – 303
Binding site	304 – 304
Binding site	305 – 305
Binding site	306 – 306
Binding site	307 – 307
Alternative sequence	225 – 1040	Missing. In isoform 3.
Mutagenesis	295 – 295	V -> E. Abolished NF-kappa-B activation in response to muramyl dipeptide stimulation.
Mutagenesis	305 – 305	K -> R. No activation.

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; 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;

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.