Paralogue Annotation for RYR2 residue 4282
Residue details
Gene: RYR2Reference Sequences: LRG:
LRG_402, Ensembl variant:
ENST00000366574 /
ENSP00000355533Amino Acid Position: 4282
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane region
Paralogue Variants mapped to RYR2 residue 4282
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | RYR1 | A4331T | Exertional heat illness | High | 7 |
25658027 |
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 | ILTLMRMLSLKSLKKQMKKVKKMTVKDMVT>A<FFSSYWSIFMTLLHFVASVFRGFFRIICSL | 4312 |
| RYR1 | AGRALRGLSYRSLRRRVRRLRRLTAREAAT>A<VAALLWAAVTRAGAAGAGAAAGALGLLWGS | 4361 |
| RYR3 | VTDFLKRATLKNLRKQYRNVKKMTAKELVK>V<LFSFFWMLFVGLFQLLFTILGGIFQILWST | 4213 |
| cons | > < | |
Known Variants in RYR2
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.A4282V | c.12845C>T |
Putative Benign | | | SIFT: tolerated
Polyphen: benign |
| Reports | Putative Benign | |
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 |