| Variant ID | 638 |
|---|---|
| Entrez Gene ID | 114548 |
| Gene | NLRP3 (GeneCards) |
| Location | hg19 1:247588450-247588450
hg38 1:247425148-247425148 |
| Disease | Muckle Wells syndrome (view all the variants in this disease) |
| Method | Sanger |
| Mutation(HGVS format) | NC_000001.10:g.247588450 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 567 |
| Amino acid changes in protein | E > K |
| Position in cDNA | 1699 |
| Changes in cDNA | G > A |
| mRNA accession | NM_001243133.1 |
| mRNA length | 4470 |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs104895389 |
| Variant IDs in COSMIC (version 89) | 1690078 |
| Variant occurences in COSMIC | 1(stomach)|1(skin) |
| EIGEN score | -0.2136 |
| CADD Raw score (version 1.3) | 4.910964 (Deleterious) |
| FATHMM raw prediction score | 0.16728 (Tolerated) |
| SIFT score | 0.276 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.76 (Tolerated) |
| MutatioinAssessor score | 1.11 (Tolerated) |
| PROVEAN score | -1.96 (Tolerated) |
| MetaSVM score | 0.085 (Deleterious) |
| MetaLR score | 0.748 (Deleterious) |
| MCAP score | 0.528 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.96 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.018 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.004 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.82 |
| Deleterious probability by iFish2 | 0.009 (Neutral) |
| Deleterious probability by DeFine | 0.6346 (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 | 24326009.07 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 24326009 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Muckle Wells syndrome (view all the variants in this disease) |
| OMIM ID | 191900 |
| Pubmed ID | 24326009 |
|---|---|
| Title | Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. |
| Journal | Annals of the rheumatic diseases |
| Publication date | 2015.03 |
| Disease | Muckle Wells syndrome |
| Population | Spain;Japan |