Paralogue Annotation for RYR1 residue 1243

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1243
Reference Amino Acid: Q - Glutamine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1243

No paralogue variants have been mapped to residue 1243 for RYR1.



RYR1FAICGLQEGFEPFAINMQRPVTTWFSKGLP>Q<FEPVPLEHPHYEVSRVDGTVDTPPCLRLTH1273
RYR2FTICGLQEGYEPFAVNTNRDITMWLSKRLP>Q<FLQVPSNHEHIEVTRIDGTIDSSPCLKVTQ1287
RYR3YTMCGLQEGFEPFAVNMNRDVAMWFSKRLP>T<FVNVPKDHPHIEVMRIDGTMDSPPCLKVTH1273
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q1243Lc.3728A>T Putative BenignSIFT:
Polyphen: