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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P14778: Variant p.Lys131Glu

Interleukin-1 receptor type 1
Gene: IL1R1
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Variant information Variant position: help 131 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 Lysine (K) to Glutamate (E) at position 131 (K131E, p.Lys131Glu). 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 (K) to medium size and acidic (E) 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 CRMO3; likely pathogenic; results in increased function in positive regulation of interleukin-1-mediated signaling pathway due to lack of inhibition by IL1RN; severely decreased interaction with IL1RN; no effect on interaction with IL1A and IL1B. Any additional useful information about the variant.


Sequence information Variant position: help 131 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 569 The length of the canonical sequence.
Location on the sequence: help AKFVENEPNLCYNAQAIFKQ K LPVAGDGGLVCPYMEFFKNE 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                         AKFVENEPNLCYNAQAIFKQKLPVAGDGGLVCPYMEFFKNE

Mouse                         VTVLENDPGLCYSTQATFPQRLHIAGDGSLVCPYVSYFKDE

Rat                           MSVLENDPGLCYNTQASFIQRLHVAGDGSLVCPYLDFFKDE
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 18 – 569 Interleukin-1 receptor type 1, membrane form
Topological domain 18 – 336 Extracellular
Domain 118 – 210 Ig-like C2-type 2
Disulfide bond 121 – 164
Mutagenesis 131 – 131 K -> D. Severely decreased interaction with IL1RN.
Mutagenesis 131 – 131 K -> H. No effect on interaction with IL1RN.
Mutagenesis 131 – 131 K -> R. No effect on interaction with IL1RN.
Beta strand 127 – 133



Literature citations
Identification of an IL-1 receptor mutation driving autoinflammation directs IL-1-targeted drug design.
Wang Y.; Wang J.; Zheng W.; Zhang J.; Wang J.; Jin T.; Tao P.; Wang Y.; Liu C.; Huang J.; Lee P.Y.; Yu X.; Zhou Q.;
Immunity 56:1485-1501(2023)
Cited for: VARIANT CRMO3 GLU-131; CHARACTERIZATION OF VARIANT CRMO3 GLU-131; INVOLVEMENT IN CRMO3; FUNCTION; MUTAGENESIS OF LYS-131;
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.