Variant position: 525 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 MNLFQKEVDCEKFYSFIHMT FQEFFAAMYYLLEEEKEGRT--N
Rhesus macaque MNLFQKEVDCEKFYSFIHMT FQEFFAAMYYLLEEEKEGRT-
Mouse MNVFQKEVDCERFYSFSHMT FQEFFAAMYYLLEEEAEGETV
Rat MNVFQKEVDCERFYSFSHMT FQEFFAAMYYLLEEEEEGVTV
Bovine MNLFQKEVDCEKFYSFIHMT FQEFFAAMYYLLEEDNHGEM-
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
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.
Aksentijevich I.; Nowak M.; Mallah M.; Chae J.J.; Watford W.T.; Hofmann S.R.; Stein L.; Russo R.; Goldsmith D.; Dent P.; Rosenberg H.F.; Austin F.; Remmers E.F.; Balow J.E. Jr.; Rosenzweig S.; Komarow H.; Shoham N.G.; Wood G.; Jones J.; Mangra N.; Carrero H.; Adams B.S.; Moore T.L.; Schikler K.; Hoffman H.; Lovell D.J.; Lipnick R.; Barron K.; O'Shea J.J.; Kastner D.L.; Goldbach-Mansky R.;
Arthritis Rheum. 46:3340-3348(2002)
Cited for: VARIANTS CINCA HIS-266; ASN-305; LEU-525 AND CYS-572;
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