| Variant ID | 884 |
|---|---|
| Entrez Gene ID | 6262 |
| Gene | RYR2 (GeneCards) |
| Location | hg19 1:237666605-237666605
hg38 1:237503305-237503305 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.237666605 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 805 |
| Amino acid changes in protein | G > R |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1254 |
| CADD Raw score (version 1.3) | 7.179227 (Deleterious) |
| FATHMM raw prediction score | 0.99347 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.1 (Deleterious) |
| PROVEAN score | -6.45 (Deleterious) |
| MetaSVM score | 0.69 (Deleterious) |
| MetaLR score | 0.736 (Deleterious) |
| MCAP score | 0.523 (Deleterious) |
| FitCons score | 0.526 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.73 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.994 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.26 |
| Deleterious probability by iFish2 | 0.9999 (Deleterious) |
| Deleterious probability by DeFine | 0.9515 (Deleterious) |
| Entrez Gene ID | 6262 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RYR2 (GeneCards) |
| Number of variants in RYR2 in this database | 13 (view all the variants) |
| Full name | ryanodine receptor 2 |
| Band | 1q43 |
| Other IDs | Vega: OTTHUMG00000039543 OMIM: 180902 HGNC: HGNC:10484 Ensembl: ENSG00000198626 |
| Other names | RyR, ARVC2, ARVD2, RYR-2, VTSIP |
| Summary | This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (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; |