| Variant ID | 1480 |
|---|---|
| Entrez Gene ID | 10392 |
| Gene | NOD1 (GeneCards) |
| Location | hg19 7:30486597-30486597
hg38 7:30446981-30446981 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000007.13:g.30486597_30486597 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_001354849.1 |
| mRNA length | 4511 |
| Reference length | 159138663 |
| Deleterious probability by DeFine | 0.9076 (Deleterious) |
|---|
| Entrez Gene ID | 10392 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NOD1 (GeneCards) |
| Number of variants in NOD1 in this database | 3 (view all the variants) |
| Full name | nucleotide binding oligomerization domain containing 1 |
| Band | 7p14.3 |
| Other IDs | Vega: OTTHUMG00000023923 OMIM: 605980 HGNC: HGNC:16390 Ensembl: ENSG00000106100 |
| Other names | CARD4, NLRC1, CLR7.1 |
| Summary | This gene encodes a member of the nucleotide-binding oligomerization domain (NOD)-like receptor (NLR) family of proteins. The encoded protein plays a role in innate immunity by acting as a pattern-recognition receptor (PRR) that binds bacterial peptidoglycans and initiates inflammation. This protein has also been implicated in the immune response to viral and parasitic infection. Major structural features of this protein include an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. Mutations in this gene are associated with asthma, inflammatory bowel disease, Behcet disease and sarcoidosis in human patients. [provided by RefSeq, Aug 2017] |
| Individual ID | 28867142.30 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |