Paralogue Annotation for RYR2 residue 3997
Residue details
Gene: RYR2Reference Sequences: LRG:
LRG_402, Ensembl variant:
ENST00000366574 /
ENSP00000355533Amino Acid Position: 3997
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region
Paralogue Variants mapped to RYR2 residue 3997
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | RYR1 | R4041W | Malignant hyperthermia | Medium | 9 |
16835904, 24055113, 25637381 |
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 | LLKELMDLQKDMVVMLLSMLEGNVVNGTIG>K<QMVDMLVESSNNVEMILKFFDMFLKLKDLT | 4027 |
| RYR1 | LLKELLDLQKDMVVMLLSLLEGNVVNGMIA>R<QMVDMLVESSSNVEMILKFFDMFLKLKDIV | 4071 |
| RYR3 | LLKELLDLLQDMVVMLLSLLEGNVVNGTIG>K<QMVDTLVESSTNVEMILKFFDMFLKLKDLT | 3923 |
| cons | > < | |
Known Variants in RYR2
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.K3997E | c.11989A>G |
Inherited Arrhythmia | CPVT | | SIFT: deleterious
Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | CPVT |
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74.
19926015 |
| 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 |
| Inherited Arrhythmia | CPVT |
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. J Med Genet. 2014 51(1):35-44. doi: 10.1136/jmedgenet-2013-101917.
24136861 |