Variant position: 307 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 IHKIVRKPSRILFLMDGFDE LQGAFDEHIGPLCTDWQKAER
Rhesus macaque IRKIVSKPSRILFLMDGFDE LQGAFDEHIGPLCTDWQKAER
Mouse VCKILRKPSRILFLMDGFDE LQGAFDEHIGEVCTDWQKAVR
Rat VCKILCKPSRILFLMDGFDE LQGAFDEHIEEVCTDWQKAVR
Bovine IGKIVSKPSRILFLMDGFDE LQGAFDEHTEALCTNWRKVER
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
Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.
Aganna E.; Martinon F.; Hawkins P.N.; Ross J.B.; Swan D.C.; Booth D.R.; Lachmann H.J.; Gaudet R.; Woo P.; Feighery C.; Cotter F.E.; Thome M.; Hitman G.A.; Tschopp J.; McDermott M.F.;
Arthritis Rheum. 46:2445-2452(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3); VARIANT MWS MET-200; VARIANTS FCAS1/MWS TRP-262 AND PRO-307;
Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.
Arostegui J.I.; Aldea A.; Modesto C.; Rua M.J.; Argueelles F.; Gonzalez-Ensenat M.A.; Ramos E.; Rius J.; Plaza S.; Vives J.; Yaguee J.;
Arthritis Rheum. 50:4045-4050(2004)
Cited for: VARIANTS FCAS1 MET-200; PRO-307 AND LYS-490; VARIANT CINCA ASN-305; VARIANT MWS MET-350;
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.