Paralogue Annotation for RYR2 residue 2390

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2390
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2390

No paralogue variants have been mapped to residue 2390 for RYR2.



RYR2GPSPNS-GSSKTLDTEEEEDDTIHMGNAIM>T<FYSALIDLLGRCAPEMHLIHAGKGEAIRIR2420
RYR1GPGIRRDRRREHFGEEPPEENRVHLGHAIM>S<FYAALIDLLGRCAPEMHLIQAGKGEALRIR2454
RYR3LPSQGY-KREVSTGDDEEEEEIVHMGNAIM>S<FYSALIDLLGRCAPEMHLIQTGKGEAIRIR2317
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T2390Ic.7169C>T 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
Inherited ArrhythmiaCPVT Inherited catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation. Pediatr Int. 2016 58(6):512-515. doi: 10.1111/ped.12910. 27225049