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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96P20: Variant p.Arg262Trp

NACHT, LRR and PYD domains-containing protein 3
Gene: NLRP3
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Variant information Variant position: help 262 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 Arginine (R) to Tryptophan (W) at position 262 (R262W, p.Arg262Trp). 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 large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In FCAS1 and MWS; spontaneous polymerization into inflammasome speck. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 262 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1036 The length of the canonical sequence.
Location on the sequence: help DWASGTLYQDRFDYLFYIHC R EVSLVTQRSLGDLIMSCCPD 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                         DWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPD

Rhesus macaque                DWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPD

Mouse                         DWALGKLFKDKFDYLFFIHCREVSLRTPRSLADLIVSCWPD

Rat                           DWALGKLFKDKFDYLFFIHCREVSLRAPKSLADLIISCWPD

Bovine                        DWASEKLYQDRFDYLFYIHCREVSLGTQRSLGDLIASCCPG
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 – 1036 NACHT, LRR and PYD domains-containing protein 3
Domain 220 – 536 NACHT
Helix 261 – 263



Literature citations
Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.
Aganna E.; Martinon F.; Hawkins P.N.; Ross J.B.; Swan D.C.; Booth D.R.; Lachmann H.J.; Gaudet R.; Woo P.; Feighery C.; Cotter F.E.; Thome M.; Hitman G.A.; Tschopp J.; McDermott M.F.;
Arthritis Rheum. 46:2445-2452(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3); VARIANT MWS MET-200; VARIANTS FCAS1/MWS TRP-262 AND PRO-307; The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response.
Baroja-Mazo A.; Martin-Sanchez F.; Gomez A.I.; Martinez C.M.; Amores-Iniesta J.; Compan V.; Barbera-Cremades M.; Yaguee J.; Ruiz-Ortiz E.; Anton J.; Bujan S.; Couillin I.; Brough D.; Arostegui J.I.; Pelegrin P.;
Nat. Immunol. 15:738-748(2014)
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT FCAS1/MWS TRP-262; CHARACTERIZATION OF VARIANT CINCA ASN-305; CHARACTERIZATION OF VARIANT CINCA/MWS MET-350; New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.
Dode C.; Le Du N.; Cuisset L.; Letourneur F.; Berthelot J.-M.; Vaudour G.; Meyrier A.; Watts R.A.; Scott D.G.I.; Nicholls A.; Granel B.; Frances C.; Garcier F.; Edery P.; Boulinguez S.; Domergues J.-P.; Delpech M.; Grateau G.;
Am. J. Hum. Genet. 70:1498-1506(2002)
Cited for: VARIANT FCAS1 MET-200; VARIANTS MWS ASN-305; MET-350; THR-441 AND ARG-571; VARIANT FCAS1/MWS TRP-262;
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.