Paralogue Annotation for RYR2 residue 4028

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4028
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4028

No paralogue variants have been mapped to residue 4028 for RYR2.



RYR2QMVDMLVESSNNVEMILKFFDMFLKLKDLT>S<SDTFKEYDPDGKGVISKRDFHKAMESHKHY4058
RYR1QMVDMLVESSSNVEMILKFFDMFLKLKDIV>G<SEAFQDYVTDPRGLISKKDFQKAMDSQKQF4102
RYR3QMVDTLVESSTNVEMILKFFDMFLKLKDLT>S<SDTFKEYDPDGKGIISKKEFQKAMEGQKQY3954
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S4028Lc.12083C>T Putative BenignSIFT:
Polyphen: