Paralogue Annotation for RYR2 residue 2217
Residue details
Gene: RYR2Reference Sequences: LRG:
LRG_402, Ensembl variant:
ENST00000366574 /
ENSP00000355533Amino Acid Position: 2217
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region
Paralogue Variants mapped to RYR2 residue 2217
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | RYR1 | H2253Y | Malignant hyperthermia | High | 7 |
21965348 |
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 | ITFPKMVANCCRFLCYFCRISRQNQKAMFD>H<LSYLLENSSVGLASPAMRGSTPLDVAAASV | 2247 |
| RYR1 | IRFPKMVTSCCRFLCYFCRISRQNQRSMFD>H<LSYLLENSGIG--L-GMQGSTPLDVAAASV | 2280 |
| RYR3 | IAFPKMVASCCRFLCYFCRISRQNQKAMFE>H<LSYLLENSSVGLASPSMRGSTPLDVAASSV | 2144 |
| cons | > < | |
Known Variants in RYR2
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.H2217Y | c.6649C>T |
Inherited Arrhythmia | CPVT | | SIFT: deleterious
Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | CPVT |
Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009 119(18):2426-34.
19398665 |
| 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 |