Paralogue Annotation for RYR1 residue 600

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 600
Reference Amino Acid: D - Aspartate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 600

No paralogue variants have been mapped to residue 600 for RYR1.



RYR1SPEVLNIIQENHIKSIISLLDKHGRNHKVL>D<VLCSLCVCNGVAVRSNQDLITENLLPGREL630
RYR2SPEALNIIKEGHIKSIISLLDKHGRNHKVL>D<VLCSLCVCHGVAVRSNQHLICDNLLPGRDL642
RYR3SPEALNLIAEGHIKSIISLLDKHGRNHKVL>D<ILCSLCLCNGVAVRANQNLICDNLLPRRNL629
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D600Ec.1800C>A Putative BenignSIFT:
Polyphen: