Variant position: 407 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1036 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 SDEAQARAAFSLIQENEVLF TMCFIPLVCWIVCTGLKQQME
Rhesus macaque SDEAQARAAFSLIQENEVLF TMCFIPLVCWIVCTGLKQQME
Mouse SNELQAREAFRLIQENEVLF TMCFIPLVCWIVCTGLKQQME
Rat SNELQAREAFRLIQENEILF TMCFIPLVCWIVCTGLKQQME
Bovine SDEQQAREAFRLIQENEILF TMCFIPLVCWIVCTGLKQQMD
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 – 1036 NACHT, LRR and PYD domains-containing protein 3
220 – 536 NACHT
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.
Neven B.; Callebaut I.; Prieur A.-M.; Feldmann J.; Bodemer C.; Lepore L.; Derfalvi B.; Benjaponpitak S.; Vesely R.; Sauvain M.J.; Oertle S.; Allen R.; Morgan G.; Borkhardt A.; Hill C.; Gardner-Medwin J.; Fischer A.; de Saint Basile G.;
Cited for: VARIANTS CINCA LEU-262; PRO-262; ASN-305; GLY-305; SER-311; MET-350; ASP-356; PRO-407; ILE-438; CYS-572 AND PHE-634;
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