Paralogue Annotation for RYR1 residue 1246

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1246
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1246

No paralogue variants have been mapped to residue 1246 for RYR1.



RYR1CGLQEGFEPFAINMQRPVTTWFSKGLPQFE>P<VPLEHPHYEVSRVDGTVDTPPCLRLTHRTW1276
RYR2CGLQEGYEPFAVNTNRDITMWLSKRLPQFL>Q<VPSNHEHIEVTRIDGTIDSSPCLKVTQKSF1290
RYR3CGLQEGFEPFAVNMNRDVAMWFSKRLPTFV>N<VPKDHPHIEVMRIDGTMDSPPCLKVTHKTF1276
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1246Sc.3736C>T Putative BenignSIFT: tolerated
Polyphen: benign