Variant position: 175 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 ESQSRLEAATKECQALEGRA RAASEQA-RQLESEREALQQQH
Mouse ESQSRLEAATKDRQALEGRI RAVSEQV-RQLESEREVLQQQ
Rat ESQSRLEAATKERQTLEGRI RAVSEQV-RQLESEREVLQQQ
Pig ESQSRLEAATKERQALESRV RATSEQV-RQLENEREALQQQ
Bovine ESQSRLEAATKERQALESRA RVASEKA-RQLESEREALEQR
Drosophila DREHQYKEHVKECQAQIAIL RVENQELKRDLETKIEQIEGV
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
174 – 224 Missing. In isoform 3.
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa B signaling.
Doeffinger R.; Smahi A.; Bessia C.; Geissmann F.; Feinberg J.; Durandy A.; Bodemer C.; Kenwrick S.J.; Dupuis-Girod S.; Blanche S.; Wood P.; Rabia S.H.; Headon D.J.; Overbeek P.A.; Le Deist F.; Holland S.M.; Belani K.; Kumararatne D.S.; Fischer A.; Shapiro R.; Conley M.E.; Reimund E.; Kalhoff H.; Abinun M.; Munnich A.; Israael A.; Courtois G.; Casanova J.-L.;
Nat. Genet. 27:277-285(2001)
Cited for: INVOLVEMENT IN OLEDAID; INVOLVEMENT IN EDAID1; VARIANTS EDAID1 PRO-175; PRO-227; GLY-288; ASN-311; ARG-417 AND PHE-417;
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.