Paralogue Annotation for RYR2 residue 4742
Residue details
Gene: RYR2Reference Sequences: LRG:
LRG_402, Ensembl variant:
ENST00000366574 /
ENSP00000355533Amino Acid Position: 4742
Reference Amino Acid: H - Histidine
Protein Domain: Transmembrane region
Paralogue Variants mapped to RYR2 residue 4742
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | RYR1 | H4813Y | Myopathy, congenital | High | 9 |
22473935 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to
check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing.
It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR2.
| RYR2 | VVFTDNSFLYLAWYMTMSVLGHYNNFFFAA>H<LLDIAMGFKTLRTILSSVTHNGKQLVLTVG | 4772 |
| RYR1 | VIFTDNSFLYLGWYMVMSLLGHYNNFFFAA>H<LLDIAMGVKTLRTILSSVTHNGKQLVMTVG | 4843 |
| RYR3 | VVFTDNSFLYLAWYTTMSVLGHYNNFFFAA>H<LLDIAMGFKTLRTILSSVTHNGKQLVLTVG | 4675 |
| cons | > < | |
Known Variants in RYR2
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.H4742Y | c.14224C>T |
Other Cardiac Phenotype | | | SIFT: deleterious
Polyphen: probably damaging |
| Reports | Other Cardiac Phenotype | |
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. Circ Arrhythm Electrophysiol. 2012 5(4):748-56. doi: 10.1161/CIRCEP.112.970517.
22787013 |
| Other Cardiac Phenotype | |
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118.
24025405 |