| Variant ID | 823 |
|---|---|
| Entrez Gene ID | 7402 |
| Gene | UTRN (GeneCards) |
| Location | hg19 6:144843214-144843214
hg38 6:144522078-144522078 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000006.11:g.144843214 A>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1880 |
| Amino acid changes in protein | L > F |
| 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 | 0.3224 |
| CADD Raw score (version 1.3) | 4.898232 (Deleterious) |
| FATHMM raw prediction score | 0.82663 (Tolerated) |
| SIFT score | 0.023 (Deleterious) |
| LRT score | 0.001 (Deleterious) |
| MutationTaster score | 0.793 (Tolerated) |
| MutatioinAssessor score | 2.215 (Deleterious) |
| PROVEAN score | -1.58 (Tolerated) |
| MetaSVM score | -0.57 (Tolerated) |
| MetaLR score | 0.271 (Tolerated) |
| MCAP score | 0.029 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.513 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.233 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.691 |
| Deleterious probability by iFish2 | 0.9513 (Deleterious) |
| Deleterious probability by DeFine | 0.7714 (Deleterious) |
| 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 | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |