Paralogue Annotation for RYR1 residue 2550

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2550
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2550

No paralogue variants have been mapped to residue 2550 for RYR1.



RYR1HVLDVGFLPDMRAAASLDTATFSTTEMALA>L<NRYLCLAVLPLITKCAPLFAGTEHRAIMVD2580
RYR2HLLEVGFLPDLRAAASLDTAALSATDMALA>L<NRYLCTAVLPLLTRCAPLFAGTEHHASLID2546
RYR3HLLEVGFLPDLRASASLDTVSLSTTEAALA>L<NRYICSAVLPLLTRCAPLFAGTEHCTSLID2443
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L2550Vc.7648C>G Putative BenignSIFT:
Polyphen: benign