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.



RYR2FICGIGNDYFDTVPHGFETHTLQEHNLANY>L<FFLMYLINKDETEHTGQESYVWKMYQERCW4949
RYR1FICGIGSDYFDTTPHGFETHTLEEHNLANY>M<FFLMYLINKDETEHTGQESYVWKMYQERCW5020
RYR3FICGIGNDYFDTTPHGFETHTLQEHNLANY>L<FFLMYLINKDETEHTGQESYVWKMYQERCW4852
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L4919Sc.14756T>C Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaCPVT Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086