Paralogue Annotation for RYR2 residue 4469

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4469
Reference Amino Acid: R - Arginine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4469

No paralogue variants have been mapped to residue 4469 for RYR2.



RYR2GEKEEKAKEDKGKQKLR--------QLHTH>R<YGEPEVPESAFWKKIIAYQQKLLNYFARNF4499
RYR1GEKEEVPEPTPEPPKKQ---------APPS>P<PPKKEEAGGEFWGELEVQRVKFLNYLSRNF4560
RYR3GEKEDKDKEEEQAEYLWTEVTKKKKRRCGQ>K<VEKPEAFTANFFKGLEIYQTKLLHYLARNF4410
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R4469Gc.13405A>G Putative BenignSIFT: tolerated
Polyphen: possibly damaging
p.R4469Tc.13406G>C Putative BenignSIFT:
Polyphen: