Paralogue Annotation for RYR2 residue 4588

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4588
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4588

No paralogue variants have been mapped to residue 4588 for RYR2.



RYR2HYVLEESSGYMEPTLRILAILHTVISFFCI>I<GYYCLKVPLVIFKREKEVARKLEFDGLYIT4618
RYR1YYFLEESTGYMEPALRCLSLLHTLVAFLCI>I<GYNCLKVPLVIFKREKELARKLEFDGLYIT4690
RYR3FFVLQESTGYMAPTLRALAIIHTIISLVCV>V<GYYCLKVPLVVFKREKEIARKLEFDGLYIT4523
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Ile4588Thrc.13763T>C UnknownSIFT:
Polyphen: