Variant position: 441 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 GLKQQMESGKSLAQTSKTTT AVYVFFLSSLLQPRGGSQEHG
Rhesus macaque GLKQQMESGKSLAQTSKTTT AVYTFFLSSLLQPRGGSQEHR
Mouse GLKQQMETGKSLAQTSKTTT AVYVFFLSSLLQSRGGIEEHL
Rat GLKQQMETGKSLAQTSKTTT AVYVFFLSSLLQSRGGIEEHL
Bovine GLKQQMDSGKSLARTSKTTT AVYIFFLSSLLQSQGGSQENH
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
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.
Dode C.; Le Du N.; Cuisset L.; Letourneur F.; Berthelot J.-M.; Vaudour G.; Meyrier A.; Watts R.A.; Scott D.G.I.; Nicholls A.; Granel B.; Frances C.; Garcier F.; Edery P.; Boulinguez S.; Domergues J.-P.; Delpech M.; Grateau G.;
Am. J. Hum. Genet. 70:1498-1506(2002)
Cited for: VARIANT FCAS1 MET-200; VARIANTS MWS ASN-305; MET-350; THR-441 AND ARG-571; VARIANT FCAS1/MWS TRP-262;
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.