No paralogue variants have been mapped to residue 2721 for RYR2.
| RYR2 | KQSSMDSEGNFNPQPVDTSNITIPEKLEYF>I<NKYAEHSHDKWSMDKLANGWIYGEIYSDSS | 2751 |
| RYR1 | KKATVDAEGNFDPRPVETLNVIIPEKLDSF>I<NKFAEYTHEKWAFDKIQNNWSYGENIDEEL | 2785 |
| RYR3 | KQISVDADGNFDPKPINTMNFSLPEKLEYI>V<TKYAEHSHDKWACDKSQSGWKYGISLDENV | 2648 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I2721T | c.8162T>C | Conflict | rs201500134 | SIFT: tolerated Polyphen: possibly damaging | |
| Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | |||
| Other Cardiac Phenotype | Next-generation sequencing of 34 genes in sudden unexplained death victims in forensics and in patients with channelopathic cardiac diseases. Int J Legal Med. 2015 129(4):793-800. doi: 10.1007/s00414-014-1105-y. 25467552 | ||||
| p.I2721V | c.8161A>G | Benign | SIFT: Polyphen: benign | ||