Paralogue Annotation for RYR1 residue 117

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 117
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 117

No paralogue variants have been mapped to residue 117 for RYR1.



RYR1----SSQGGGHRTLLYGHAILLRHAHSRMY>L<SCLTTSRSMTDKLAFDVGLQEDATGEACWW147
RYR2FMMKTAQGGGHRTLLYGHAILLRHSYSGMY>L<CCLSTSRSSTDKLAFDVGLQEDTTGEACWW160
RYR3----AAQGGGHRTLLYGHAVLLRHSFSGMY>L<TCLTTSRSQTDKLAFDVGLREHATGEACWW150
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L117Vc.349C>G Putative BenignSIFT:
Polyphen: