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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y6K9: Variant p.Glu57Lys

NF-kappa-B essential modulator
Gene: IKBKG
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Variant information Variant position: help 57 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 Glutamate (E) to Lysine (K) at position 57 (E57K, p.Glu57Lys). 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 medium size and acidic (E) to large size and basic (K) 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 IP; shows the same luciferase activity as the control. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 57 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 419 The length of the canonical sequence.
Location on the sequence: help AMLHLPSEQGAPETLQRCLE E NQELRDAIRQSNQILRERCE 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                         AMLHLPSEQGAPETLQRCLEENQELRDAIRQSNQILRERCE

Mouse                         AMLHLPSEQGTPETLQRCLEENQELRDAIRQSNQMLRERCE

Rat                           AMLHLPSEQGTPETLQRCLEENQELRDAIRQSNQMLRERCE

Pig                           TMLHLPSEQGAPETFQRCLEENQELRDAIRQSNQMLRERCE

Bovine                        AMLHVPSEQGTPETFQRCLEENQELRDAIRQSNQMLRERCE

Drosophila                    TVNCIPVSITASQQQHKSLDSGSSQQQSLATSFIMGEIQSD
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 – 419 NF-kappa-B essential modulator
Region 1 – 197 Required for interaction with and ubiquitination by MARCHF2
Region 44 – 111 Interaction with CHUK/IKBKB
Coiled coil 49 – 356
Modified residue 43 – 43 Phosphoserine; by IKKB
Modified residue 68 – 68 Phosphoserine
Disulfide bond 54 – 54 Interchain
Mutagenesis 68 – 68 S -> A. Increases formation of homodimers.
Mutagenesis 68 – 68 S -> E. Abolishes interaction with IKBKB; abolishes TNF-alpha induced NF-kappa-B activity.
Helix 38 – 129



Literature citations
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.
Aradhya S.; Woffendin H.; Jakins T.; Bardaro T.; Esposito T.; Smahi A.; Shaw C.; Levy M.; Munnich A.; D'Urso M.; Lewis R.A.; Kenwrick S.; Nelson D.L.;
Hum. Mol. Genet. 10:2171-2179(2001)
Cited for: VARIANTS IP LYS-57 AND VAL-407; Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.
Fusco F.; Bardaro T.; Fimiani G.; Mercadante V.; Miano M.G.; Falco G.; Israeel A.; Courtois G.; D'Urso M.; Ursini M.V.;
Hum. Mol. Genet. 13:1763-1773(2004)
Cited for: VARIANTS IP LYS-57; LYS-90 DEL AND TRP-123; VARIANT ASN-113; CHARACTERIZATION OF VARIANTS IP LYS-57; LYS-90 DEL AND TRP-123; CHARACTERIZATION OF VARIANT ASN-113;
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.