Paralogue Annotation for RYR1 residue 3948

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3948
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3948

No paralogue variants have been mapped to residue 3948 for RYR1.



RYR1TVDYLLRLQESISDFYWYYSGKDVIEEQGK>R<NFSKAMSVAKQVFNSLTEYIQGPCTGNQQS3978
RYR2TVDYLLRVQESISDFYWYYSGKDVIDEQGQ>R<NFSKAIQVAKQVFNTLTEYIQGPCTGNQQS3934
RYR3TVDYLLRLQESISDFYWYYSGKDIIDESGQ>H<NFSKALAVTKQIFNSLTEYIQGPCIGNQQS3830
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R3948Gc.11842A>G Putative BenignSIFT:
Polyphen: