Paralogue Annotation for RYR2 residue 4470

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4470
Reference Amino Acid: Y - Tyrosine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4470

No paralogue variants have been mapped to residue 4470 for RYR2.



RYR2EKEEKAKEDKGKQKLR--------QLHTHR>Y<GEPEVPESAFWKKIIAYQQKLLNYFARNFY4500
RYR1EKEEVPEPTPEPPKKQ---------APPSP>P<PKKEEAGGEFWGELEVQRVKFLNYLSRNFY4561
RYR3EKEDKDKEEEQAEYLWTEVTKKKKRRCGQK>V<EKPEAFTANFFKGLEIYQTKLLHYLARNFY4411
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y4470Cc.13409A>G Putative BenignSIFT:
Polyphen: