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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NWZ3: Variant p.Arg12Cys

Interleukin-1 receptor-associated kinase 4
Gene: IRAK4
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Variant information Variant position: help 12 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 Cysteine (C) at position 12 (R12C, p.Arg12Cys). 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 medium size and polar (C) 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 IMD67; no effect on inhibition of NF-kappa-B complex activation; loss of interaction with MYD88; decreases protein stability. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 12 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 460 The length of the canonical sequence.
Location on the sequence: help MNKPITPSTYV R CLNVGLIRKLSDFIDPQEGW 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                         MNKPITPSTYVRCLNVGLIRKLSDFIDPQEGW

Mouse                         MNKPLTPSTYIRNLNVGILRKLSDFIDPQEGW

Bovine                        MNKPITASTYVRCLSLGLIRKLSDFIDPQEGW
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 – 460 Interleukin-1 receptor-associated kinase 4
Modified residue 1 – 1 N-acetylmethionine
Alternative sequence 1 – 124 Missing. In isoform 2.
Helix 11 – 13



Literature citations
TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway.
Hoarau C.; Gerard B.; Lescanne E.; Henry D.; Francois S.; Lacapere J.J.; El Benna J.; Dang P.M.; Grandchamp B.; Lebranchu Y.; Gougerot-Pocidalo M.A.; Elbim C.;
J. Immunol. 179:4754-4765(2007)
Cited for: VARIANT IMD67 CYS-12; CHARACTERIZATION OF VARIANT IMD67 CYS-12; VARIANT HIS-391; FUNCTION; Functional assessment of the mutational effects of human IRAK4 and MyD88 genes.
Yamamoto T.; Tsutsumi N.; Tochio H.; Ohnishi H.; Kubota K.; Kato Z.; Shirakawa M.; Kondo N.;
Mol. Immunol. 58:66-76(2014)
Cited for: CHARACTERIZATION OF VARIANTS VAL-5; TRP-20; THR-26; VAL-39 AND ARG-98; CHARACTERIZATION OF VARIANTS IMD67 CYS-12 AND ASP-298; FUNCTION; INTERACTION WITH MYD88;
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.