| Variant ID | 797 |
|---|---|
| Entrez Gene ID | 1824 |
| Gene | DSC2 (GeneCards) |
| Location | hg19 18:28662927-28662927
hg38 18:31082961-31082961 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000018.9:g.28662927 C>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 348 |
| Amino acid changes in protein | V > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2485 |
| CADD Raw score (version 1.3) | 3.286884 (Deleterious) |
| FATHMM raw prediction score | 0.85918 (Tolerated) |
| SIFT score | 0.224 (Tolerated) |
| LRT score | 0.011 (Tolerated) |
| MutationTaster score | 0.996 (Deleterious) |
| MutatioinAssessor score | 2.08 (Deleterious) |
| PROVEAN score | -1.45 (Tolerated) |
| MetaSVM score | -0.854 (Tolerated) |
| MetaLR score | 0.157 (Tolerated) |
| MCAP score | 0.024 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.41 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.237 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.001 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.983 |
| Deleterious probability by iFish2 | 0.5125 (Deleterious) |
| Deleterious probability by DeFine | 0.8554 (Deleterious) |
| Entrez Gene ID | 1824 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DSC2 (GeneCards) |
| Number of variants in DSC2 in this database | 1 (view all the variants) |
| Full name | desmocollin 2 |
| Band | 18q12.1 |
| Other IDs | Vega: OTTHUMG00000131981 OMIM: 125645 HGNC: HGNC:3036 Ensembl: ENSG00000134755 |
| Other names | DG2, DSC3, CDHF2, ARVD11, DGII/III |
| Summary | This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015] |
| 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; |