| Variant ID | 278 |
|---|---|
| Entrez Gene ID | 6262 |
| Gene | RYR2 (GeneCards) |
| Location | hg19 1:237804283-237804283
hg38 1:237640983-237640983 |
| Disease | Catecholaminergic polymorphic ventricular tachycardia1 (view all the variants in this disease) |
| Method | High Resolution Melting |
| Mutation(HGVS format) | NC_000001.10:g.237804283 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 47 |
| Position in protein | 2401 |
| Amino acid changes in protein | R > H |
| Position in cDNA | 7202 |
| Changes in cDNA | G > A |
| mRNA accession | NM_001035.2 |
| mRNA length | 14904 |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8469 |
| CADD Raw score (version 1.3) | 7.560347 (Deleterious) |
| FATHMM raw prediction score | 0.98941 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.705 (Deleterious) |
| PROVEAN score | -6.38 (Deleterious) |
| MetaSVM score | 1.066 (Deleterious) |
| MetaLR score | 0.98 (Deleterious) |
| MCAP score | 0.864 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.66 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.926 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.949 |
| Deleterious probability by DeFine | 0.9444 (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 | 20851825.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 20851825 |
| Whose mosaic mutation | Mother |
| Phenotype | 1 |
| Number of affected children | 2 ( male: 1; female: 1; ) |
| Disease | Catecholaminergic polymorphic ventricular tachycardia1 (view all the variants in this disease) |
| OMIM ID | 604772 |
| Pubmed ID | 20851825 |
|---|---|
| Title | Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring |
| Journal | Europace |
| Publication date | 2011.01 |
| Disease | Catecholaminergic polymorphic ventricular tachycardia |
| Number of cases | Female cases: 1; |