Variant position: 383 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 IFQLLLDHPDRVLLTFDGFD EFKFRFTDRERHCSPTDPTSV
Chimpanzee IFQLLLDHPDRVLLTFDGFD EFKFRFTDRERHCSPTDPTSV
Mouse VFQFLLDHPDRVLLTFDGLD EFKFRFTDRERHCSPIDPTSV
Bovine VFQVLLDHPERILLTFDGFD EFRFRFTDQERHCCPTAPTSV
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.
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 new CARD15 mutation in Blau syndrome.
van Duist M.M.; Albrecht M.; Podswiadek M.; Giachino D.; Lengauer T.; Punzi L.; De Marchi M.;
Eur. J. Hum. Genet. 13:742-747(2005)
Cited for: VARIANT BLAUS LYS-383;
NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain.
Rose C.D.; Arostegui J.I.; Martin T.M.; Espada G.; Scalzi L.; Yague J.; Rosenbaum J.T.; Modesto C.; Cristina Arnal M.; Merino R.; Garcia-Consuegra J.; Carballo Silva M.A.; Wouters C.H.;
Arthritis Rheum. 60:1797-1803(2009)
Cited for: VARIANTS BLAUS GLN-334; TRP-334; LYS-383; LEU-490; TYR-495 AND CYS-587;
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.