Paralogue Annotation for RYR1 residue 3296

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3296
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3296

No paralogue variants have been mapped to residue 3296 for RYR1.



RYR1MPHVIEITLPMLCSYLPRWWERGPEAPPSA>L<PAGAPPPCTAVTSDHLNSLLGNILRIIVNN3326
RYR2MPHVMEVILPMLCSYMSRWWEHGPENNPE->-<--RAEMCCTALNSEHMNTLLGNILKIIYNN3287
RYR3MPHVIEVILPMLCNYLSYWWERGPENLPP->-<--STGPCCTKVTSEHLSLILGNILKIINNN3183
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L3296Vc.9886C>G Putative BenignSIFT: tolerated
Polyphen: benign