Paralogue Annotation for RYR2 residue 4919

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4919
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4919

No paralogue variants have been mapped to residue 4919 for RYR2.

RYR2	FICGIGNDYFDTVPHGFETHTLQEHNLANY>L<FFLMYLINKDETEHTGQESYVWKMYQERCW	4949
RYR1	FICGIGSDYFDTTPHGFETHTLEEHNLANY>M<FFLMYLINKDETEHTGQESYVWKMYQERCW	5020
RYR3	FICGIGNDYFDTTPHGFETHTLQEHNLANY>L<FFLMYLINKDETEHTGQESYVWKMYQERCW	4852
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4919S	c.14756T>C	Inherited Arrhythmia	CPVT		SIFT: deleterious Polyphen: possibly damaging
Reports		Inherited Arrhythmia	CPVT	Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086