Paralogue Annotation for RYR2 residue 2394
Residue details
Gene: RYR2Reference Sequences: LRG:
LRG_402, Ensembl variant:
ENST00000366574 /
ENSP00000355533Amino Acid Position: 2394
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region
Paralogue Variants mapped to RYR2 residue 2394
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | RYR1 | A2428T | Malignant hyperthermia | High | 9 |
12059893 |
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 | NS-GSSKTLDTEEEEDDTIHMGNAIMTFYS>A<LIDLLGRCAPEMHLIHAGKGEAIRIRSILR | 2424 |
| RYR1 | RRDRRREHFGEEPPEENRVHLGHAIMSFYA>A<LIDLLGRCAPEMHLIQAGKGEALRIRAILR | 2458 |
| RYR3 | GY-KREVSTGDDEEEEEIVHMGNAIMSFYS>A<LIDLLGRCAPEMHLIQTGKGEAIRIRSILR | 2321 |
| cons | > < | |
Known Variants in RYR2
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.A2394G | c.7181C>G |
Inherited Arrhythmia | CPVT | | SIFT: deleterious
Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | CPVT |
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J Med Genet. 2005 42(11):863-70.
16272262 |
| Inherited Arrhythmia | CPVT |
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 |