Paralogue Annotation for RYR1 residue 3478

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3478
Reference Amino Acid: M - Methionine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3478

No paralogue variants have been mapped to residue 3478 for RYR1.



RYR1SHNFKREEQNFVVQNEINNMSFLTADNKSK>M<AKAGDIQSGGSDQERTKKKRRGDRYSVQTS3508
RYR2SHNFKREEQNFVVQNEINNMSFLITDTKSK>M<SKAA-----VSDQERKKMKRKGDRYSMQTS3464
RYR3SHNFKREEQNFVIQNEINNLAFLTGDSKSK>M<SKAMQVKSGGQDQERKKTKRRGDLYSIQTS3365
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M3478Ic.10434G>A Putative BenignSIFT:
Polyphen: