Paralogue Annotation for RYR1 residue 3218

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3218
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3218

No paralogue variants have been mapped to residue 3218 for RYR1.



RYR1PALGECLARLAAAMPVAFLEPQLNEYNACS>V<YTTKSPRERAILGLPNSVEEMCPDIPVLER3248
RYR2SALGECLAAFAGAFPVAFLETHLDKHNIYS>I<YNTKSSRERAALSLPTNVEDVCPNIPSLEK3213
RYR3PALGECLASLAAAIPVAFLEPTLNRYNPLS>V<FNTKTPRERSILGMPDTVEDMCPDIPQLEG3109
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V3218Lc.9652G>T Putative BenignSIFT: tolerated
Polyphen: benign