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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9HC29: Variant p.Glu383Lys

Nucleotide-binding oligomerization domain-containing protein 2
Gene: NOD2
Variant information Variant position: help 383 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Glutamate (E) to Lysine (K) at position 383 (E383K, p.Glu383Lys). 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 medium size and acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

Variant description: help In BLAUS; hyperactive. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.

Sequence information Variant position: help 383 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 IFQLLLDHPDRVLLTFDGFD E FKFRFTDRERHCSPTDPTSV 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.





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.
Chain 1 – 1040 Nucleotide-binding oligomerization domain-containing protein 2
Domain 293 – 618 NACHT
Lipidation 395 – 395 S-palmitoyl cysteine
Alternative sequence 225 – 1040 Missing. In isoform 3.
Mutagenesis 379 – 379 D -> A. No disruption in NOD2-CARD9 interaction. Decreased NF-kappa-B activation in response to muramyl dipeptide stimulation.
Mutagenesis 395 – 395 C -> S. Abolished palmitoylation and localization to the cell membrane; when associated with S-1033.
Mutagenesis 396 – 396 S -> Y. Abolished NF-kappa-B activation in response to muramyl dipeptide stimulation.
Mutagenesis 401 – 401 T -> IS. Abolished NF-kappa-B activation in response to muramyl dipeptide stimulation.

Literature citations
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators.
Parkhouse R.; Boyle J.P.; Monie T.P.;
FEBS Lett. 588:3382-3389(2014)
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS BLAUS GLN-334; TRP-334; GLY-383; LYS-383; PHE-469; ASP-481; LEU-490; TYR-495; LEU-496; THR-513; CYS-587; ASN-605; PRO-605 AND LYS-670; CHARACTERIZATION OF VARIANTS AND CYS-471; A new CARD15 mutation in Blau syndrome.
van Duist M.M.; Albrecht M.; Podswiadek M.; Giachino D.; Lengauer T.; Punzi L.; De Marchi M.;
Eur. J. Hum. Genet. 13:742-747(2005)
Cited for: VARIANT BLAUS LYS-383; NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain.
Rose C.D.; Arostegui J.I.; Martin T.M.; Espada G.; Scalzi L.; Yague J.; Rosenbaum J.T.; Modesto C.; Cristina Arnal M.; Merino R.; Garcia-Consuegra J.; Carballo Silva M.A.; Wouters C.H.;
Arthritis Rheum. 60:1797-1803(2009)
Cited for: VARIANTS BLAUS GLN-334; TRP-334; LYS-383; LEU-490; TYR-495 AND CYS-587;
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.