Paralogue Annotation for RYR2 residue 1269

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1269
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1269

No paralogue variants have been mapped to residue 1269 for RYR2.



RYR2FAVNTNRDITMWLSKRLPQFLQVPSNHEHI>E<VTRIDGTIDSSPCLKVTQKSFGSQNSNTDI1299
RYR1FAINMQRPVTTWFSKGLPQFEPVPLEHPHY>E<VSRVDGTVDTPPCLRLTHRTWGSQNSLVEM1285
RYR3FAVNMNRDVAMWFSKRLPTFVNVPKDHPHI>E<VMRIDGTMDSPPCLKVTHKTFGTQNSNADM1285
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1269Qc.3805G>C Putative BenignSIFT:
Polyphen: