Variant position: 123 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 419 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 LVERLGLEKLDLKRQKEQAL REVEHLKRCQQQMAEDKASVK
Mouse LVERLSLEKLDLRSQREQAL KELEQLKKCQQQMAEDKASVK
Rat LVERLSLEKLDLRRQREQAL EDLEHLKKCQQQMAEDKASVK
Bovine LVVRLSLEKRELRQQREQAL KEVERLKTCQQQMAEDKASVK
Drosophila EVVKL-----------QNMM TEYLALKSTLDKVNQTMLNYH
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 – 419 NF-kappa-B essential modulator
49 – 356
111 – 111 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
139 – 139 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
143 – 143 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
115 – 115 K -> R. No change in the ubiquitination level; when associated with R-399.
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;
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.