Sequence information
Variant position: 32 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 317 The length of the canonical sequence.
Location on the sequence:
AMEGPRDGLKKERLLDDRHD
S GLDSMKDEEYEQMVKELQEI
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human AMEGPRDGLKKERLL--DDRHDS GLDSMKDEEYEQMVKELQEI
Mouse AMEGPRDGLKKERLV--DDRHDS GLDSMKDEEYEQMVKELR
Rat AMEGPRDGLKKERLV--DDRHDS GLDSMKDEDYEQMVKELR
Pig AMEGPRDALKKERLL--DDRHDS GLDSMKDEEYEQMVKELR
Chicken GCEPPRKE-RQGGLLPPDDRHDS GLDSMKEEEYRQLVRELE
Sequence annotation in neighborhood: 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.
Type Positions Description
Chain
1 – 317
NF-kappa-B inhibitor alpha
Motif
30 – 36
Destruction motif
Modified residue
32 – 32
Phosphoserine; by IKKA and IKKE
Modified residue
36 – 36
Phosphoserine; by IKKA, IKKB, IKKE and TBK1
Modified residue
42 – 42
Phosphotyrosine; by Tyr-kinases
Cross
21 – 21
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO or ubiquitin); alternate
Cross
21 – 21
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
Cross
22 – 22
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Mutagenesis
21 – 21
K -> R. Little change in Tax-stimulated transactivation. No sumoylation. Greatly reduced Tax- or cytokine-stimulated transactivation and decrease in ubiquitination and degradation; when associated with R-22.
Mutagenesis
22 – 22
K -> R. Little change in Tax-stimulated transactivation. No sumoylation. Greatly reduced Tax- or cytokine-stimulated transactivation and decrease in ubiquitination and degradation; when associated with R-21.
Mutagenesis
31 – 31
D -> A. Loss of phosphorylation; when associated with A-35.
Mutagenesis
32 – 32
S -> A. Loss of phosphorylation, ubiquitination and degradation; when associated with A-36.
Mutagenesis
32 – 32
S -> T. Decrease in phosphorylation and degradation; when associated with T-36.
Mutagenesis
35 – 35
D -> A. Loss in phosphorylation; when associated with A-31.
Mutagenesis
35 – 35
D -> G. No change neither in phosphorylation, nor on degradation.
Mutagenesis
36 – 36
S -> A. Loss of phosphorylation, ubiquitination, and degradation; when associated with A-32.
Mutagenesis
36 – 36
S -> T. Decrease in phosphorylation and degradation; when associated with T-32.
Mutagenesis
38 – 38
K -> R. No change in Tax-stimulated transactivation. No change in Tax-stimulated transactivation; when associated with R-47.
Mutagenesis
42 – 42
Y -> F. No phosphorylation.
Mutagenesis
47 – 47
K -> R. Little change in Tax-stimulated transactivation. No change in Tax-stimulated transactivation; when associated with R-38.
Literature citations
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.
Courtois G.; Smahi A.; Reichenbach J.; Doffinger R.; Cancrini C.; Bonnet M.; Puel A.; Chable-Bessia C.; Yamaoka S.; Feinberg J.; Dupuis-Girod S.; Bodemer C.; Livadiotti S.; Novelli F.; Rossi P.; Fischer A.; Israel A.; Munnich A.; Le Deist F.; Casanova J.L.;
J. Clin. Invest. 112:1108-1115(2003)
Cited for: VARIANT EDAID2 ILE-32;
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.