No paralogue variants have been mapped to residue 3304 for RYR2.
RYR2 | NTLLGNILKIIYNNLGIDEGAWMKRLAVFS>Q<PIINKVKPQLLKTHFLPLMEKLKKKAATVV | 3334 |
RYR1 | NSLLGNILRIIVNNLGIDEASWMKRLAVFA>Q<PIVSRARPELLQSHFIPTIGRLRKRAGKVV | 3373 |
RYR3 | SLILGNILKIINNNLGIDEASWMKRIAVYA>Q<PIISKARPDLLRSHFIPTLEKLKKKAVKTV | 3230 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q3304E | c.9910C>G | 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 | ||
p.Gln3304Arg | c.9911A>G | Unknown | SIFT: Polyphen: |