| Variant ID | 9437 |
|---|---|
| Entrez Gene ID | 7402 |
| Gene | UTRN (GeneCards) |
| Location | hg19 6:145671379-145671379
hg38 6:145350243-145350243 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.145671379 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7154 |
| CADD Raw score (version 1.3) | 1.949537 (Deleterious) |
| FATHMM raw prediction score | 0.33158 (Tolerated) |
| Deleterious probability by DeFine | 0.2627 (Neutral) |
| Entrez Gene ID | 7402 (NCBI Gene) |
|---|---|
| Official Gene Symbol | UTRN (GeneCards) |
| Number of variants in UTRN in this database | 22 (view all the variants) |
| Full name | utrophin |
| Band | 6q24.2 |
| Other IDs | Vega: OTTHUMG00000015746 OMIM: 128240 HGNC: HGNC:12635 Ensembl: ENSG00000152818 |
| Other names | DRP, DMDL, DRP1 |
| Summary | This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.09 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |