Sequence information
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:
LVRAKGVVPGSTAPLEFLHI
T FQCFFAAFYLALSADVPPAL
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 LVRAKGVVPGSTAPLEFLHIT FQCFFAAFYLALSADVPPAL
Chimpanzee LVRAKGVVPGSTAPLEFLHIT FQCFFAAFYLALSADVPPAL
Mouse LVRAQSSVPGSKAPLEFLHIT FQCFFAAFYLAVSADTSVAS
Bovine LVLAKRVVPGSTAPLEFLHIT FQCFFAAFYLALSADTPPSS
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
Chain
1 – 1040
Nucleotide-binding oligomerization domain-containing protein 2
Domain
293 – 618
NACHT
Alternative sequence
225 – 1040
Missing. In isoform 3.
Literature citations
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; GLY-383; LYS-383; PHE-469; ASP-481; LEU-490; TYR-495; LEU-496; THR-513; CYS-587; ASN-605; PRO-605 AND LYS-670; CHARACTERIZATION OF VARIANTS AND CYS-471;
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;
Disclaimer:
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.