Paralogue Annotation for RYR1 residue 680

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 680
Reference Amino Acid: H - Histidine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 680

No paralogue variants have been mapped to residue 680 for RYR1.



RYR1GRAEGTTQYSKWYFEVMVDEVTPFLTAQAT>H<LRVGWALTEGYTPYPGAGEGWGGNGVGDDL710
RYR2GVSEGSAQYKKWYYELMVDHTEPFVTAEAT>H<LRVGWASTEGYSPYPGGGEEWGGNGVGDDL722
RYR3GVAEGSAQYKKWYFELIIDQVDPFLTAEPT>H<LRVGWASSSGYAPYPGGGEGWGGNGVGDDL709
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H680Yc.2038C>T Putative BenignSIFT:
Polyphen: