Paralogue Annotation for RYR1 residue 1258

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1258
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1258

No paralogue variants have been mapped to residue 1258 for RYR1.



RYR1NMQRPVTTWFSKGLPQFEPVPLEHPHYEVS>R<VDGTVDTPPCLRLTHRTWGSQNSLVEMLFL1288
RYR2NTNRDITMWLSKRLPQFLQVPSNHEHIEVT>R<IDGTIDSSPCLKVTQKSFGSQNSNTDIMFY1302
RYR3NMNRDVAMWFSKRLPTFVNVPKDHPHIEVM>R<IDGTMDSPPCLKVTHKTFGTQNSNADMIYC1288
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Arg1258Leuc.3773G>T UnknownSIFT:
Polyphen: