Variant position: 413 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 PDFCCPKCQYQAPDMDTLQI HVMECIE--
Mouse PDFCCPKCQYQAPDMDTLQI HVMECIE
Rat PDFCCPKCQYQAPDMDTLQI HVMECIE
Pig PNFCCPKCQYQAPDMDTLQI HVMECIE
Bovine PKFCCPKCQYQAPDIDTLQI HVMECIE
Drosophila TTLRCPICSKSFNALSVLQS HVNDCLD
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
389 – 419 CCHC NOA-type
251 – 419 Required for interaction with TNFAIP3
382 – 419 Interaction with CYLD
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
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.
Conte M.I.; Pescatore A.; Paciolla M.; Esposito E.; Miano M.G.; Lioi M.B.; McAleer M.A.; Giardino G.; Pignata C.; Irvine A.D.; Scheuerle A.E.; Royer G.; Hadj-Rabia S.; Bodemer C.; Bonnefont J.P.; Munnich A.; Smahi A.; Steffann J.; Fusco F.; Ursini M.V.;
Hum. Mutat. 35:165-177(2014)
Cited for: VARIANTS IP PRO-170; GLN-173; PRO-314; PRO-322 AND TYR-413;
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.