Paralogue Annotation for RYR2 residue 4583

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4583
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4583

No paralogue variants have been mapped to residue 4583 for RYR2.



RYR2RIIAVHYVLEESSGYMEPTLRILAILHTVI>S<FFCIIGYYCLKVPLVIFKREKEVARKLEFD4613
RYR1DENMVYYFLEESTGYMEPALRCLSLLHTLV>A<FLCIIGYNCLKVPLVIFKREKELARKLEFD4685
RYR3EEAMVFFVLQESTGYMAPTLRALAIIHTII>S<LVCVVGYYCLKVPLVVFKREKEIARKLEFD4518
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Ser4583Tyrc.13748C>A UnknownSIFT:
Polyphen: