Variant position: 337 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1024 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 LAEGLLLQIQKSRCLRNLMK TPLFVVITCAIQMGESEFHSH
Mouse QVERLWAQIQESRCLRNLMK TPLFVVITCAIQMGRQEFQAH
Rat LAEGLLFQMQESRCLRNLMR TPLFVVITCAIQMGSEEFQAH
Bovine FAEDLLLQIQKSRCLRNLMK TPLFVVITCAIQMGKSEFHSH
Xenopus tropicalis EANGLLFQLEESSFMQNLMK TPLFVVIACALRMGESDFQMN
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 – 1024 NLR family CARD domain-containing protein 4
163 – 476 NACHT
89 – 753 Missing. In isoform 2.
93 – 1024 Missing. In isoform 4.
157 – 1024 Missing. In isoform 3.
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
Canna S.W.; de Jesus A.A.; Gouni S.; Brooks S.R.; Marrero B.; Liu Y.; DiMattia M.A.; Zaal K.J.; Sanchez G.A.; Kim H.; Chapelle D.; Plass N.; Huang Y.; Villarino A.V.; Biancotto A.; Fleisher T.A.; Duncan J.A.; O'Shea J.J.; Benseler S.; Grom A.; Deng Z.; Laxer R.M.; Goldbach-Mansky R.;
Nat. Genet. 46:1140-1146(2014)
Cited for: VARIANT AIFEC SER-337; CHARACTERIZATION OF VARIANT AIFEC SER-337;
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.