Paralogue Annotation for RYR1 residue 1268

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1268
Reference Amino Acid: C - Cysteine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1268

No paralogue variants have been mapped to residue 1268 for RYR1.



RYR1SKGLPQFEPVPLEHPHYEVSRVDGTVDTPP>C<LRLTHRTWGSQNSLVEMLFLRLSLPVQFHQ1298
RYR2SKRLPQFLQVPSNHEHIEVTRIDGTIDSSP>C<LKVTQKSFGSQNSNTDIMFYRLSMPIECAE1312
RYR3SKRLPTFVNVPKDHPHIEVMRIDGTMDSPP>C<LKVTHKTFGTQNSNADMIYCRLSMPVECHS1298
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C1268Sc.3802T>A Putative BenignSIFT:
Polyphen:
p.C1268Yc.3803G>A Putative BenignSIFT: deleterious
Polyphen: probably damaging