Paralogue Annotation for RYR2 residue 754

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 754
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 754

No paralogue variants have been mapped to residue 754 for RYR2.



RYR2SYGFDGLHLWSGCIARTVSSPNQHLLRTDD>V<ISCCLDLSAPSISFRINGQPVQGMFENFNI784
RYR1SYGFDGLHLWTGHVARPVTSPGQHLLAPED>V<ISCCLDLSVPSISFRINGCPVQGVFESFNL772
RYR3SYGFDGLHLWSGRIPRAVASINQHLLRSDD>V<VSCCLDLGVPSISFRINGQPVQGMFENFNT771
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V754Fc.2260G>T Putative BenignSIFT: deleterious
Polyphen: probably damaging