| Variant ID | 218 |
|---|---|
| Entrez Gene ID | 114548 |
| Gene | NLRP3 (GeneCards) |
| Location | hg19 1:247587967-247587967
hg38 1:247424665-247424665 |
| Disease | CINCA syndrome (view all the variants in this disease) |
| Method | ABI3730 |
| Mutation(HGVS format) | NC_000001.10:g.247587967 T>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 406 |
| Amino acid changes in protein | M > V |
| Position in cDNA | 1216 |
| Changes in cDNA | A > G |
| mRNA accession | NM_001243133.1 |
| mRNA length | 3105 |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2627 |
| CADD Raw score (version 1.3) | 3.333367 (Deleterious) |
| FATHMM raw prediction score | 0.83107 (Tolerated) |
| SIFT score | 0.121 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.898 (Deleterious) |
| MutatioinAssessor score | 1 (Tolerated) |
| PROVEAN score | -2.38 (Tolerated) |
| MetaSVM score | -0.48 (Tolerated) |
| MetaLR score | 0.322 (Tolerated) |
| MCAP score | 0.13 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.17 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.728 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.984 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.895 |
| Deleterious probability by DeFine | 0.9499 (Deleterious) |
| Entrez Gene ID | 114548 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NLRP3 (GeneCards) |
| Number of variants in NLRP3 in this database | 78 (view all the variants) |
| Full name | NLR family pyrin domain containing 3 |
| Band | 1q44 |
| Other IDs | Vega: OTTHUMG00000040647 OMIM: 606416 HGNC: HGNC:16400 Ensembl: ENSG00000162711 |
| Other names | AII, AVP, FCU, MWS, FCAS, KEFH, CIAS1, FCAS1, NALP3, C1orf7, CLR1.1, DFNA34, PYPAF1, AGTAVPRL |
| Summary | This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008] |
| Individual ID | 21702021.04 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 21702021 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | CINCA syndrome (view all the variants in this disease) |
| OMIM ID | 607115 |
| Pubmed ID | 21702021 |
|---|---|
| Title | High Incidence of NLRP3 Somatic Mosaicism in Patients With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome: Results of an International Multicenter Collaborative Study |
| Journal | Arthritis and Rheumatol |
| Publication date | 2011.11 |
| Disease | CINCA syndrome |
| Number of cases | cases of unknown sex: 18; |