Paralogue Annotation for RYR1 residue 1220

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1220
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1220

No paralogue variants have been mapped to residue 1220 for RYR1.



RYR1VCSLGPGQVGHLNLGQDVSSLRFFAICGLQ>E<GFEPFAINMQRPVTTWFSKGLPQFEPVPLE1250
RYR2VCSLGVAQVGRMNFGKDVSTLKYFTICGLQ>E<GYEPFAVNTNRDITMWLSKRLPQFLQVPSN1264
RYR3ICCLGLSQIGRMNLGTDASTFKFYTMCGLQ>E<GFEPFAVNMNRDVAMWFSKRLPTFVNVPKD1250
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1220Kc.3658G>A Putative BenignSIFT:
Polyphen: