Paralogue Annotation for RYR1 residue 4070

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4070
Reference Amino Acid: I - Isoleucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4070

No paralogue variants have been mapped to residue 4070 for RYR1.



RYR1ARQMVDMLVESSSNVEMILKFFDMFLKLKD>I<VGSEAFQDYVTDPRGLISKKDFQKAMDSQK4100
RYR2GKQMVDMLVESSNNVEMILKFFDMFLKLKD>L<TSSDTFKEYDPDGKGVISKRDFHKAMESHK4056
RYR3GKQMVDTLVESSTNVEMILKFFDMFLKLKD>L<TSSDTFKEYDPDGKGIISKKEFQKAMEGQK3952
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I4070Mc.12210T>G Putative BenignSIFT:
Polyphen: