Paralogue Annotation for RYR1 residue 2647

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2647
Reference Amino Acid: H - Histidine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2647

No paralogue variants have been mapped to residue 2647 for RYR1.



RYR1SMLQHLLRRLVFDVPILNEFAKMPLKLLTN>H<YERCWKYYCLPTGWANFGVTSEEELHLTRK2677
RYR2SMMQHLLRRLVFDVPLLNEHAKMPLKLLTN>H<YERCWKYYCLPGGWGNFGAASEEELHLSRK2643
RYR3SMLQQLLRRLVFDVPQLNEYCKMPLKLLTN>H<YEQCWKYYCLPSGWGSYGLAVEEELHLTEK2540
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H2647Qc.7941C>G Putative BenignSIFT: deleterious
Polyphen: benign