No paralogue variants have been mapped to residue 4600 for RYR2.
RYR2 | PTLRILAILHTVISFFCIIGYYCLKVPLVI>F<KREKEVARKLEFDGLYITEQPSEDDIKGQW | 4630 |
RYR1 | PALRCLSLLHTLVAFLCIIGYNCLKVPLVI>F<KREKELARKLEFDGLYITEQPEDDDVKGQW | 4702 |
RYR3 | PTLRALAIIHTIISLVCVVGYYCLKVPLVV>F<KREKEIARKLEFDGLYITEQPSEDDIKGQW | 4535 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F4600L | c.13798T>C | Inherited Arrhythmia | CPVT | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | CPVT | Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PLoS One. 2015 10(6):e0131517. doi: 10.1371/journal.pone.0131517. 26114861 |