Paralogue Annotation for RYR1 residue 1754

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1754
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1754

No paralogue variants have been mapped to residue 1754 for RYR1.



RYR1RSRRSMLSEYIVPLTPETRAITLFPPGRST>E<NGHPRHGLPGVGVTTSLRPPHHFSPPCFVA1784
RYR2TARLMMNNEYIVPMTEETKSITLFPD---->-<-ENKKHGLPGIGLSTSLRPRMQFSSPSFVS1770
RYR3ERKLMMKNEYIIPITSTTRNIRLFPD---->-<-ESKRHGLPGVGLRTCLKPGFRFSTPCFVV1674
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1754Ac.5261A>C Putative BenignSIFT: tolerated
Polyphen: benign