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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9C000: Variant p.Val1241Leu

NACHT, LRR and PYD domains-containing protein 1
Gene: NLRP1
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Variant information Variant position: help 1241 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Valine (V) to Leucine (L) at position 1241 (V1241L, p.Val1241Leu). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1241 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1473 The length of the canonical sequence.
Location on the sequence: help MIHNALRFIPVTSVVLLYHR V HPEEVTFHLYLIPSDCSIRK 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                         MIHNALRFIPV-TSVVLLYHRVHPEEVTFHLYLIPSDCSIRK

Zebrafish                     L------GIPVKVHCDLLIFMTHTCPIILNVYFFPSDSLVE

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 – 1473 NACHT, LRR and PYD domains-containing protein 1
Chain 1213 – 1473 NACHT, LRR and PYD domains-containing protein 1, C-terminus
Domain 1079 – 1364 FIIND
Region 1213 – 1364 UPA
Mutagenesis 1240 – 1240 R -> D. Slightly reduced formation of an inflammasome filament together with PYCARD/ASC.
Mutagenesis 1249 – 1249 H -> A. Complete loss of autocatalytic processing and IL1B release. Autocatalytic processing cannot be restored by treatment with hydroxylamine.
Beta strand 1241 – 1253



Literature citations
The PYRIN domain: a novel motif found in apoptosis and inflammation proteins.
Bertin J.; DiStefano P.S.;
Cell Death Differ. 7:1273-1274(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS HIS-155; SER-246; MET-878; VAL-1119; VAL-1184; LEU-1241 AND CYS-1366;
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.