Paralogue Annotation for RYR2 residue 4936

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4936
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4936

No paralogue variants have been mapped to residue 4936 for RYR2.



RYR2ETHTLQEHNLANYLFFLMYLINKDETEHTG>Q<ESYVWKMYQERCWEFFPAGDCFRKQYEDQL4966
RYR1ETHTLEEHNLANYMFFLMYLINKDETEHTG>Q<ESYVWKMYQERCWDFFPAGDCFRKQYEDQL5037
RYR3ETHTLQEHNLANYLFFLMYLINKDETEHTG>Q<ESYVWKMYQERCWDFFPAGDCFRKQYEDQL4869
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q4936Kc.14806C>A Inherited ArrhythmiaCPVTSIFT:
Polyphen:
ReportsInherited ArrhythmiaCPVT Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PLoS One. 2015 10(6):e0131517. doi: 10.1371/journal.pone.0131517. 26114861