Paralogue Annotation for RYR1 residue 1758

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1758
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1758

No paralogue variants have been mapped to residue 1758 for RYR1.



RYR1SMLSEYIVPLTPETRAITLFPPGRSTENGH>P<RHGLPGVGVTTSLRPPHHFSPPCFVAALPA1788
RYR2MMNNEYIVPMTEETKSITLFPD------EN>K<KHGLPGIGLSTSLRPRMQFSSPSFVSI---1771
RYR3MMKNEYIIPITSTTRNIRLFPD------ES>K<RHGLPGVGLRTCLKPGFRFSTPCFVVT---1675
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1758Lc.5273C>T Putative BenignSIFT: tolerated
Polyphen: benign