Variant position: 173 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 LQESQSRLEAATKECQALEG RARAASEQA-RQLESEREALQQ
Mouse LQESQSRLEAATKDRQALEG RIRAVSEQV-RQLESEREVLQ
Rat LQESQSRLEAATKERQTLEG RIRAVSEQV-RQLESEREVLQ
Pig LQESQSRLEAATKERQALES RVRATSEQV-RQLENEREALQ
Bovine LQESQSRLEAATKERQALES RARVASEKA-RQLESEREALE
Drosophila AADREHQYKEHVKECQAQIA ILRVENQELKRDLETKIEQIE
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
150 – 257 Interaction with TANK
49 – 356
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.