Paralogue Annotation for RYR2 residue 4188

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4188
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4188

No paralogue variants have been mapped to residue 4188 for RYR2.



RYR2TQWEKPQVKESKRQFIFDVVNEGGEKEKME>L<FVNFCEDTIFEMQLAAQISESDLNERSANK4218
RYR1AQWEMPQVKESKRQFIFDVVNEGGEAEKME>L<FVSFCEDTIFEMQIAAQISEPEGEPETDED4262
RYR3TQWEKPQVKESKRQFIFDVVNEGGEQEKME>L<FVNFCEDTIFEMQLASQISESDSADRPEEE4114
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L4188Pc.12563T>C Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Novel ryanodine receptor 2 mutation associated with a severe phenotype of catecholaminergic polymorphic ventricular tachycardia. J Pediatr. 2012 161(2):362-4. 22608700
Inherited ArrhythmiaCPVT 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