Paralogue Annotation for RYR1 residue 682

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 682
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 682

No paralogue variants have been mapped to residue 682 for RYR1.



RYR1AEGTTQYSKWYFEVMVDEVTPFLTAQATHL>R<VGWALTEGYTPYPGAGEGWGGNGVGDDLYS712
RYR2SEGSAQYKKWYYELMVDHTEPFVTAEATHL>R<VGWASTEGYSPYPGGGEEWGGNGVGDDLFS724
RYR3AEGSAQYKKWYFELIIDQVDPFLTAEPTHL>R<VGWASSSGYAPYPGGGEGWGGNGVGDDLYS711
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R682Qc.2045G>A Putative BenignSIFT: deleterious
Polyphen: probably damaging
p.R682Wc.2044C>T Putative BenignSIFT:
Polyphen: