Paralogue Annotation for RYR2 residue 3304

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3304
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3304

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
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See full Alignment of Paralogues

Known Variants in RYR2

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: