No paralogue variants have been mapped to residue 4488 for RYR2.
RYR2 | ------QLHTHRYGEPEVPESAFWKKIIAY>Q<QKLLNYFARNFYNMRMLALFVAFAINFILL | 4518 |
RYR1 | -------APPSPPPKKEEAGGEFWGELEVQ>R<VKFLNYLSRNFYTLRFLALFLAFAINFILL | 4579 |
RYR3 | VTKKKKRRCGQKVEKPEAFTANFFKGLEIY>Q<TKLLHYLARNFYNLRFLALFVAFAINFILL | 4429 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q4488P | c.13463A>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 |