Paralogue Annotation for RYR1 residue 274

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 274
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 274

No paralogue variants have been mapped to residue 274 for RYR1.



RYR1VYYEGGAVCTHARSLWRLEPLRISWSGSHL>R<WGQPLRVRHVTTGQYLALTEDQGLVVVDAS304
RYR2VHYEGGAVSVHARSLWRLETLRVAWSGSHI>R<WGQPFRLRHVTTGKYLSLMEDKNLLLMDKE320
RYR3IFYEAGGAGTRARSLWRVEPLRISWSGSNI>R<WGQAFRLRHLTTGHYLALTEDQGLILQDRA309
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R274Pc.821G>C Putative BenignSIFT: tolerated
Polyphen: benign
p.R274Gc.820C>G Putative BenignSIFT:
Polyphen:
p.R274Cc.820C>T Putative BenignSIFT:
Polyphen:
p.R274Hc.821G>A Putative BenignSIFT:
Polyphen:
p.R274Lc.821G>T Putative BenignSIFT:
Polyphen: