Paralogue Annotation for RYR1 residue 389

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 389
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 389

No paralogue variants have been mapped to residue 389 for RYR1.



RYR1AAPDPKALRLGVLKKKAMLHQEGHMDDALS>L<TRCQQEESQAARMIHSTNGLYNQFIKSLDS419
RYR2QSVDVKSVRMGSIQRKAIMHHEGHMDDGIS>L<SRSQHEESRTARVIRSTVFLFNRFIRGLDA435
RYR3KAQDAKTSRLGPLKRKVILHQEGHMDDGLT>L<QRCQREESQAARIIRNTTALFSQFVSGN--425
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L389Mc.1165C>A Putative BenignSIFT:
Polyphen: probably damaging