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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96P20: Variant p.Tyr861Cys

NACHT, LRR and PYD domains-containing protein 3
Gene: NLRP3
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Variant information Variant position: help 861 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 Tyrosine (Y) to Cysteine (C) at position 861 (Y861C, p.Tyr861Cys). 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 aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 CINCA. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 861 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 SACCQDLASVLSTSHSLTRL Y VGENALGDSGVAILCEKAKN 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                         SACCQDLASVLSTSHSLTRLYVGENALGDSGVAILCEKAKN

Rhesus macaque                SACCQDLASVLSTSRSLTRLYVGENALGDAGVAILCEKAKN

Mouse                         SACCQDLALVLSSNHSLTRLYIGENALGDSGVQVLCEKMKD

Rat                           SACCQDLALVLSSNHSLTRLYIGENALGDSGVQVLCEKMKD

Bovine                        SASCEDLASVLSTNHSLTRLYLGENALGDSGVGILCEKVKN
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
Repeat 856 – 876 LRR 5
Modified residue 861 – 861 Phosphotyrosine
Lipidation 844 – 844 S-palmitoyl cysteine
Cross 878 – 878 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Alternative sequence 720 – 1036 Missing. In isoform 3.
Alternative sequence 836 – 892 Missing. In isoform 1 and isoform 5.
Mutagenesis 844 – 844 C -> A. Abolished palmitoylation by ZDHHC12, preventing degradation by the chaperone-mediated autophagy pathway.
Mutagenesis 861 – 861 Y -> F. Abolished phosphorylation.
Mutagenesis 864 – 864 E -> R. Decreased ability to activate the NLRP3 inflammasome.
Beta strand 859 – 861



Literature citations
Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1.
Frenkel J.; van Kempen M.J.; Kuis W.; van Amstel H.K.;
Arthritis Rheum. 50:2719-2720(2004)
Cited for: VARIANT CINCA CYS-861;
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.