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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9HC29: Variant p.Gly481Asp

Nucleotide-binding oligomerization domain-containing protein 2
Gene: NOD2
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Variant information Variant position: help 481 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 Glycine (G) to Aspartate (D) at position 481 (G481D, p.Gly481Asp). 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 glycine (G) to medium size and acidic (D) 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; atypical form with cardiac infiltration; sporadic case; uncertain significance; hyperactive. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 481 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 HEPGVADRLIRLLQETSALH G LCHLPVFSWMVSKCHQELLL 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                         HEPGVADRLIRLLQETSALHGLCHLPVFSWMVSKCHQELLL

Chimpanzee                    REPGVADRLIRLLQATSALHGLCHLPVFSWMVSKCHQELLL

Mouse                         REPGVADRLIQLIQATSALHGLCHLPVFSWMVSRCHRELLL

Bovine                        REPGVADRLLCLLRATSALHGLCHLPVFSWMVSKCHEELLL

Rabbit                        REPGVADRLIHLLQTTSALHGLCHLPVFSWMVSKCHQELLL

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
Alternative sequence 225 – 1040 Missing. In isoform 3.
Mutagenesis 481 – 481 G -> A. Increased NF-kappa-B activation in response to muramyl dipeptide stimulation.
Mutagenesis 492 – 492 V -> E. 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; Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15.
Okada S.; Konishi N.; Tsumura M.; Shirao K.; Yasunaga S.; Sakai H.; Nishikomori R.; Takihara Y.; Kobayashi M.;
Rheumatology 48:706-707(2009)
Cited for: VARIANT BLAUS ASP-481;
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.