Variant position: 605 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1040 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 LVRAKGVVPGSTAPLEFLHI TFQCFFAAFYLALSADVPPAL
Chimpanzee LVRAKGVVPGSTAPLEFLHI TFQCFFAAFYLALSADVPPAL
Mouse LVRAQSSVPGSKAPLEFLHI TFQCFFAAFYLAVSADTSVAS
Bovine LVLAKRVVPGSTAPLEFLHI TFQCFFAAFYLALSADTPPSS
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 – 1040 Nucleotide-binding oligomerization domain-containing protein 2
293 – 618 NACHT
225 – 1040 Missing. In isoform 3.
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators.
Parkhouse R.; Boyle J.P.; Monie T.P.;
FEBS Lett. 588:3382-3389(2014)
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS BLAUS GLN-334; TRP-334; LYS-383; PHE-469 AND ASN-605; CHARACTERIZATION OF VARIANTS EOS ASP-481; LEU-496; THR-513; PRO-605 AND LYS-670; CHARACTERIZATION OF VARIANTS GLY-383; CYS-471; LEU-490; TYR-495 AND CYS-587;
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members.
Milman N.; Ursin K.; Rodevand E.; Nielsen F.C.; Hansen T.V.;
Scand. J. Rheumatol. 38:190-197(2009)
Cited for: VARIANT BLAUS ASN-605;
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