Variant position: 363 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 LSVRTLLFEHCCWPDVGQED IFQLLLDHPDRVLLTFDGFDE
Chimpanzee LSVRTLLFEHCCWPDVGQED IFQLLLDHPDRVLLTFDGFDE
Mouse LSLRTLLFEHCCWPDVAQDD VFQFLLDHPDRVLLTFDGLDE
Bovine LSMRTLLFEHCCWPDLGPQD VFQVLLDHPERILLTFDGFDE
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.
379 – 379 D -> A. No disruption in NOD2-CARD9 interaction.
Interaction between NOD2 and CARD9 involves the NOD2 NACHT and the linker region between the NOD2 CARDs and NACHT domain.
Parkhouse R.; Boyle J.P.; Mayle S.; Sawmynaden K.; Rittinger K.; Monie T.P.;
FEBS Lett. 588:2830-2836(2014)
Cited for: INTERACTION WITH CARD9; VARIANTS IBD1 ALA-357; PHE-363 AND VAL-550; VARIANT ALA-463; CHARACTERIZATION OF VARIANTS IBD1 ARG-248; ALA-357; PHE-363; LEU-431; LYS-441; VAL-550; VAL-612 AND TRP-702; CHARACTERIZATION OF VARIANT BLAUS TRP-334; CHARACTERIZATION OF VARIANT ALA-463; MUTAGENESIS OF ASP-379;
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.
Tukel T.; Shalata A.; Present D.; Rachmilewitz D.; Mayer L.; Grant D.; Risch N.; Desnick R.J.;
Am. J. Hum. Genet. 74:623-636(2004)
Cited for: VARIANTS IBD1 ASN-113; ALA-357; PHE-363; VAL-550 AND SER-852;
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.