Paralogue Annotation for RYR2 residue 2750

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2750
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2750

No paralogue variants have been mapped to residue 2750 for RYR2.



RYR2FINKYAEHSHDKWSMDKLANGWIYGEIYSD>S<SKVQPLMKPYKLLSEKEKEIYRWPIKESLK2780
RYR1FINKFAEYTHEKWAFDKIQNNWSYGENIDE>E<LKTHPMLRPYKTFSEKDKEIYRWPIKESLK2814
RYR3IVTKYAEHSHDKWACDKSQSGWKYGISLDE>N<VKTHPLIRPFKTLTEKEKEIYRWPARESLK2677
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S2750Tc.8248T>A Putative BenignSIFT: tolerated
Polyphen: benign