Variant position: 203 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 756 The length of the canonical sequence.
Location on the sequence:
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 VGTLQYLAPELLEQQKYTVT VDYWSFGTLAFECITGFRPFL
Mouse VGTLQYLAPELLEQQKYTVT VDYWSFGTLAFECITGFRPFL
Rat VGTLQYLAPELLEQQKYTVT VDYWSFGTLAFECITGFRPFL
Bovine VGTLQYLAPELLEQQKYTVT VDYWSFGTLAFECITGFRPFL
Drosophila VGTRHYYAPEVVENGFYNST VDLWSFGVIAYELVTGELPFI
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
1 – 756 Inhibitor of nuclear factor kappa-B kinase subunit beta
15 – 300 Protein kinase
191 – 191 Hydroxyproline
191 – 191 P -> A. Loss of hypoxic inducibility.
202 – 217
Gain-of-function IKBKB mutation causes human combined immune deficiency.
Cardinez C.; Miraghazadeh B.; Tanita K.; da Silva E.; Hoshino A.; Okada S.; Chand R.; Asano T.; Tsumura M.; Yoshida K.; Ohnishi H.; Kato Z.; Yamazaki M.; Okuno Y.; Miyano S.; Kojima S.; Ogawa S.; Andrews T.D.; Field M.A.; Burgio G.; Morio T.; Vinuesa C.G.; Kanegane H.; Cook M.C.;
J. Exp. Med. 215:2715-2724(2018)
Cited for: FUNCTION; INVOLVEMENT IN IMD15A; VARIANT IMD15A ILE-203; CHARACTERIZATION OF VARIANT IMD15A ILE-203; MUTAGENESIS OF LYS-171 AND 272-ARG--SER-756;
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.