| Variant ID | 29726 |
|---|---|
| Entrez Gene ID | 4703 |
| Gene | NEB (GeneCards) |
| Location | hg19 2:152543981-152543981
hg38 2:151687467-151687467 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000002.11:g.152543981 G>A (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 | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0.0005 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1007769 |
| Variant occurences in COSMIC | 1(urinary_tract)|1(endometrium) |
| EIGEN score | 0.2751 |
| CADD Raw score (version 1.3) | 0.875525 (Deleterious) |
| FATHMM raw prediction score | 0.84724 (Tolerated) |
| Deleterious probability by DeFine | 0.8227 (Deleterious) |
| Entrez Gene ID | 4703 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NEB (GeneCards) |
| Number of variants in NEB in this database | 3 (view all the variants) |
| Full name | nebulin |
| Band | 2q23.3 |
| Other IDs | Vega: OTTHUMG00000153784 OMIM: 161650 HGNC: HGNC:7720 Ensembl: ENSG00000183091 |
| Other names | NEM2, NEB177D |
| Summary | This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009] |
| Individual ID | 28867142.26 (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; |