Paralogue Annotation for RYR2 residue 4534

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4534
Reference Amino Acid: P - Proline
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4534

No paralogue variants have been mapped to residue 4534 for RYR2.



RYR2AFAINFILLFYKVSTSSVVEGKE------L>P<TRSSSENAK-VTSLDS-----SSHRIIAVH4558
RYR1AFAINFILLFYKVSDSPPGEDDMEGSAAGD>V<SGAGSGGSSGW-GLGAGEEAEGDEDENMVY4630
RYR3AFAINFILLFYKVTEEPLEEETE------D>V<ANLWN-------SFND-----EEEEEAMVF4463
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P4534Sc.13600C>T Putative BenignSIFT: tolerated
Polyphen: benign
p.P4534Lc.13601C>T Putative BenignSIFT:
Polyphen: