Paralogue Annotation for RYR2 residue 4105

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4105
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4105

No paralogue variants have been mapped to residue 4105 for RYR2.



RYR2NETLDYEEFVKRFHEPAKDIGFNVAVLLTN>L<SEHMPNDTRLQTFLELAESVLNYFQPFLGR4135
RYR1NEMINCEEFANRFQEPARDIGFNVAVLLTN>L<SEHVPHDPRLHNFLELAESILEYFRPYLGR4179
RYR3NDMFNYVDFVDRFHEPAKDIGFNVAVLLTN>L<SEHMPNDSRLKCLLDPAESVLNYFEPYLGR4031
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L4105Fc.12313C>T Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Catecholaminergic polymorphic ventricular tachycardia caused by a novel mutation in the cardiac ryanodine receptor. Anadolu Kardiyol Derg. 2008 8(5):E35-6. 18849218
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