Variant position: 407 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 SPPEEPPDFCCPKCQYQAPD MDTLQIHVMECIE--
Mouse SPPEEPPDFCCPKCQYQAPD MDTLQIHVMECIE
Rat SPPEEPPDFCCPKCQYQAPD MDTLQIHVMECIE
Bovine SPPDEPPKFCCPKCQYQAPD IDTLQIHVMECIE
Drosophila ----------CPICSKSFNA LSVLQSHVNDCLD
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
396 – 417 C2HC-type
251 – 419 Required for interaction with TNFAIP3
382 – 419 Interaction with CYLD
387 – 387 Phosphoserine
399 – 399 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
399 – 399 K -> R. Abolishes BCL10-mediated but not RIPK2-mediated ubiquitination. Important decrease in the ubiquitination level; when associated with R-285. No change in the ubiquitination level; when associated with R-115 or R-224.
414 – 414 V -> S. Abolishes binding to polyubiquitin.
415 – 415 M -> S. Impairs binding to polyubiquitin.
407 – 416
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti.
Smahi A.; Courtois G.; Vabres P.; Yamaoka S.; Heuertz S.; Munnich A.; Israel A.; Heiss N.S.; Klauck S.M.; Kioschis P.; Wiemann S.; Poustka A.; Esposito T.; Bardaro T.; Gianfrancesco F.; Ciccodicola A.; D'Urso M.; Woffendin H.; Jakins T.; Donnai D.; Stewart H.; Kenwrick S.J.; Aradhya S.; Yamagata T.; Levy M.; Lewis R.A.; Nelson D.L.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT IP VAL-407;
The zinc finger of NEMO is a functional ubiquitin-binding domain.
Cordier F.; Grubisha O.; Traincard F.; Veron M.; Delepierre M.; Agou F.;
J. Biol. Chem. 284:2902-2907(2009)
Cited for: UBIQUITIN-BINDING; MUTAGENESIS OF VAL-414 AND MET-415; CHARACTERIZATION OF VARIANT IP VAL-407;
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;
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