Paralogue Annotation for RYR1 residue 3050

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3050
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3050

No paralogue variants have been mapped to residue 3050 for RYR1.



RYR1TPAKVLGSGGHASNKEKEMITSLFCKLAAL>V<RHRVSLFGTDAPAVVNCLHILARSLDARTV3080
RYR2AASRPLCSGGHASNKEKEMVTSLFCKLGVL>V<RHRISLFGNDATSIVNCLHILGQTLDARTV3045
RYR3SPLKPLSSSGYASHKEKEMVAGLFCKLAAL>V<RHRISLFGSDSTTMVSCLHILAQTLDTRTV2941
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V3050Ic.9148G>A Putative BenignSIFT:
Polyphen: benign