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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9HC29: Variant p.Ala612Val

Nucleotide-binding oligomerization domain-containing protein 2
Gene: NOD2
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Variant information Variant position: help 612 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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: help From Alanine (A) to Valine (V) at position 612 (A612V, p.Ala612Val). 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: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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

Variant description: help In IBD1; uncertain significance; no disruption of NOD2-CARD9 interaction. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 612 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1040 The length of the canonical sequence.
Location on the sequence: help VPGSTAPLEFLHITFQCFFA A FYLALSADVPPALLRHLFNC 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         VPGSTAPLEFLHITFQCFFAAFYLALSADVPPALLRHLFNC

Chimpanzee                    VPGSTAPLEFLHITFQCFFAAFYLALSADVPPALLRHLFNC

Mouse                         VPGSKAPLEFLHITFQCFFAAFYLAVSADTSVASLKHLFSC

Bovine                        VPGSTAPLEFLHITFQCFFAAFYLALSADTPPSSLRHLFQD

Rabbit                        VPGSTAPLEFLHITFQCFLAAFYLVLSTDVPTASLRYLFNC

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1040 Nucleotide-binding oligomerization domain-containing protein 2
Domain 293 – 618 NACHT
Binding site 603 – 603
Alternative sequence 225 – 1040 Missing. In isoform 3.
Mutagenesis 600 – 600 E -> A. Increased NF-kappa-B activation in response to muramyl dipeptide stimulation.
Mutagenesis 603 – 603 H -> A. Does not affect NF-kappa-B activation in response to muramyl dipeptide stimulation.
Mutagenesis 626 – 626 L -> F. Abolished NF-kappa-B activation in response to muramyl dipeptide stimulation.



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; 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;
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.