Paralogue Annotation for RYR2 residue 388

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 388
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 388

No paralogue variants have been mapped to residue 388 for RYR2.



RYR2DSVCYIQHVDTGLWLTYQSVDVKSVRMGSI>Q<RKAIMHHEGHMDDGISLSRSQHEESRTARV418
RYR1ESLCFVQHVASGLWLTYAAPDPKALRLGVL>K<KKAMLHQEGHMDDALSLTRCQQEESQAARM402
RYR3DSVCFVQHIASGLWVTYKAQDAKTSRLGPL>K<RKVILHQEGHMDDGLTLQRCQREESQAARI410
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q388Kc.1162C>A Putative BenignSIFT:
Polyphen:
p.Q388Rc.1163A>G Putative BenignSIFT:
Polyphen: