Paralogue Annotation for RYR2 residue 4155

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4155
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4155

No paralogue variants have been mapped to residue 4155 for RYR2.

RYR2	VLNYFQPFLGRIEIMGSAKRIERVYFEISE>S<SRTQWEKPQVKESKRQFIFDVVNEGGEKEK	4185
RYR1	ILEYFRPYLGRIEIMGASRRIERIYFEISE>T<NRAQWEMPQVKESKRQFIFDVVNEGGEAEK	4229
RYR3	VLNYFEPYLGRIEIMGGAKKIERVYFEISE>S<SRTQWEKPQVKESKRQFIFDVVNEGGEQEK	4081
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4155Y	c.12464C>A	Inherited Arrhythmia	CPVT		SIFT: Polyphen:
Reports		Inherited Arrhythmia	CPVT	A De Novo Novel Cardiac Ryanodine Mutation (Ser4155Tyr) Associated with Catecholaminergic Polymorphic Ventricular Tachycardia. Ann Noninvasive Electrocardiol. 2013 18(6):571-6. doi: 10.1111/anec.12089. 24147812