UniProtKB/Swiss-Prot Q9HC29: Variant p.Val955Ile

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

955 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 Valine (V) to Isoleucine (I) at position 955 (V955I, p.Val955Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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 rs5743291 [ dbSNP | Ensembl ]

Sequence information Variant position:

955 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:

VGNNIGSVGAQALALMLAKN V MLEELCLEENHLQDEGVCSL 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                         VGNNIGSVGAQALALMLAKNVMLEELCLEENHLQDEGVCSL

Chimpanzee                    VGNNIGSVGAQALALMLAKNVMLEELCLEENHLQDEGVCSL

Mouse                         VGNNIGSMGAEALALMLEKNKSLEELCLEENHICDEGVYSL

Bovine                        VGNNIGSVGAQALALMLEKNMALEELCLEENHVQDEGVCFL

Rabbit                        VGNNIGSVGAQALASMLEKNVALEELCLEENHLQDAGVCSL

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
Alternative sequence	225 – 1040	Missing. In isoform 3.
Mutagenesis	935 – 935	V -> A. Slightly decreased response to muramyl dipeptide (MDP).
Mutagenesis	936 – 936	G -> A. Does not affect response to muramyl dipeptide (MDP).
Mutagenesis	944 – 944	A -> V. Abolished pattern recognition receptor activity.
Mutagenesis	947 – 947	L -> M. Abolished pattern recognition receptor activity.
Mutagenesis	949 – 949	L -> M. Abolished pattern recognition receptor activity.
Mutagenesis	956 – 956	M -> T. Abolished pattern recognition receptor activity.
Mutagenesis	961 – 961	C -> A. Does not affect response to muramyl dipeptide (MDP).
Mutagenesis	964 – 964	E -> A. Does not affect response to muramyl dipeptide (MDP).
Mutagenesis	968 – 968	Q -> H. Abolished pattern recognition receptor activity.

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;

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.