Variant position: 406 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 RSPPEEPPDFCCPKCQYQAP DMDTLQIHVMECIE--
Mouse RSPPEEPPDFCCPKCQYQAP DMDTLQIHVMECIE
Rat RSPPEEPPDFCCPKCQYQAP DMDTLQIHVMECIE
Bovine RSPPDEPPKFCCPKCQYQAP DIDTLQIHVMECIE
Drosophila -----------CPICSKSFN ALSVLQSHVNDCLD
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.
403 – 406
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia.
Jain A.; Ma C.A.; Liu S.; Brown M.; Cohen J.; Strober W.;
Nat. Immunol. 2:223-228(2001)
Cited for: VARIANTS EDAID VAL-406 AND ARG-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.