Paralogue Annotation for RYR2 residue 4950

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4950
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4950

No paralogue variants have been mapped to residue 4950 for RYR2.

RYR2	FFLMYLINKDETEHTGQESYVWKMYQERCW>E<FFPAGDCFRKQYEDQLN	4967
RYR1	FFLMYLINKDETEHTGQESYVWKMYQERCW>D<FFPAGDCFRKQYEDQLS	5038
RYR3	FFLMYLINKDETEHTGQESYVWKMYQERCW>D<FFPAGDCFRKQYEDQLG	4870
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4950K	c.14848G>A	Inherited Arrhythmia	CPVT		SIFT: deleterious Polyphen: benign
Reports		Inherited Arrhythmia	CPVT	Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002 106(1):69-74. 12093772
		Inherited Arrhythmia	CPVT	New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405
p.Glu4950Gln	c.14848G>C	Unknown			SIFT: Polyphen: